Muscular Dystrophies: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.Muscular Dystrophy, Duchenne: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)Muscular Dystrophy, AnimalDystrophin: A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.Myotonic Dystrophy: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.Muscular Dystrophies, Limb-Girdle: A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).Muscular Dystrophy, Facioscapulohumeral: An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)Mice, Inbred mdx: A strain of mice arising from a spontaneous MUTATION (mdx) in inbred C57BL mice. This mutation is X chromosome-linked and produces viable homozygous animals that lack the muscle protein DYSTROPHIN, have high serum levels of muscle ENZYMES, and possess histological lesions similar to human MUSCULAR DYSTROPHY. The histological features, linkage, and map position of mdx make these mice a worthy animal model of DUCHENNE MUSCULAR DYSTROPHY.Muscular Dystrophy, Emery-Dreifuss: A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.Sarcoglycans: A family of transmembrane dystrophin-associated proteins that play a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.Corneal Dystrophies, Hereditary: Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.Dystroglycans: Dystrophin-associated proteins that play role in the formation of a transmembrane link between laminin-2 and DYSTROPHIN. Both the alpha and the beta subtypes of dystroglycan originate via POST-TRANSLATIONAL PROTEIN PROCESSING of a single precursor protein.Muscular Dystrophy, Oculopharyngeal: An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.Utrophin: An autosomally-encoded 376-kDa cytoskeletal protein that is similar in structure and function to DYSTROPHIN. It is a ubiquitously-expressed protein that plays a role in anchoring the CYTOSKELETON to the PLASMA MEMBRANE.Muscle, Skeletal: A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.Fuchs' Endothelial Dystrophy: Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain.Thymopoietins: Two closely related polypeptides (molecular weight 7,000) isolated from the thymus gland. These hormones induce the differentiation of prothymocytes to thymocytes within the thymus. They also cause a delayed impairment of neuromuscular transmission in vivo and are therefore believed to be the agent responsible for myasthenia gravis.Retinal Dystrophies: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.Collagen Type VI: A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Dystrophin-Associated Proteins: A group of proteins that associate with DYSTROPHIN at the CELL MEMBRANE to form the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.Sarcolemma: The excitable plasma membrane of a muscle cell. (Glick, Glossary of Biochemistry and Molecular Biology, 1990)Heterozygote Detection: Identification of genetic carriers for a given trait.Creatine Kinase: A transferase that catalyzes formation of PHOSPHOCREATINE from ATP + CREATINE. The reaction stores ATP energy as phosphocreatine. Three cytoplasmic ISOENZYMES have been identified in human tissues: the MM type from SKELETAL MUSCLE, the MB type from myocardial tissue and the BB type from nervous tissue as well as a mitochondrial isoenzyme. Macro-creatine kinase refers to creatine kinase complexed with other serum proteins.Muscle Proteins: The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.Myoblasts: Embryonic (precursor) cells of the myogenic lineage that develop from the MESODERM. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes (MYOCYTES, SKELETAL; MYOCYTES, CARDIAC; MYOCYTES, SMOOTH MUSCLE).Muscle Fibers, Skeletal: Large, multinucleate single cells, either cylindrical or prismatic in shape, that form the basic unit of SKELETAL MUSCLE. They consist of MYOFIBRILS enclosed within and attached to the SARCOLEMMA. They are derived from the fusion of skeletal myoblasts (MYOBLASTS, SKELETAL) into a syncytium, followed by differentiation.Muscles: Contractile tissue that produces movement in animals.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Lamin Type A: A subclass of developmentally regulated lamins having a neutral isoelectric point. They are found to disassociate from nuclear membranes during mitosis.Dystrophin-Associated Protein Complex: A macromolecular complex of proteins that includes DYSTROPHIN and DYSTROPHIN-ASSOCIATED PROTEINS. It plays a structural role in the linking the CYTOSKELETON to the EXTRACELLULAR MATRIX.Laminin: Large, noncollagenous glycoprotein with antigenic properties. It is localized in the basement membrane lamina lucida and functions to bind epithelial cells to the basement membrane. Evidence suggests that the protein plays a role in tumor invasion.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Caveolin 3: A caveolin that is expressed exclusively in MUSCLE CELLS and is sufficient to form CAVEOLAE in SARCOLEMMA. Mutations in caveolin 3 are associated with multiple muscle diseases including DISTAL MYOPATHY and LIMB-GIRDLE MUSCULAR DYSTROPHY.Poly(A)-Binding Protein II: A poly(A) binding protein that is involved in promoting the extension of the poly A tails of MRNA. The protein requires a minimum of ten ADENOSINE nucleotides in order for binding to mRNA. Once bound it works in conjunction with CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR to stimulate the rate of poly A synthesis by POLY A POLYMERASE. Once poly-A tails reach around 250 nucleotides in length poly(A) binding protein II no longer stimulates POLYADENYLATION. Mutations within a GCG repeat region in the gene for poly(A) binding protein II have been shown to cause the disease MUSCULAR DYSTROPHY, OCULOPHARYNGEAL.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Muscular Diseases: Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Neuromuscular Diseases: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Cytoskeletal Proteins: Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.Neuroaxonal Dystrophies: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Sarcoglycanopathies: Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.Walker-Warburg Syndrome: Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Calpain: Cysteine proteinase found in many tissues. Hydrolyzes a variety of endogenous proteins including NEUROPEPTIDES; CYTOSKELETAL PROTEINS; proteins from SMOOTH MUSCLE; CARDIAC MUSCLE; liver; platelets; and erythrocytes. Two subclasses having high and low calcium sensitivity are known. Removes Z-discs and M-lines from myofibrils. Activates phosphorylase kinase and cyclic nucleotide-independent protein kinase. This enzyme was formerly listed as EC 18.104.22.168.Cardiomyopathies: A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Plectin: A cytoskeletal linker protein with a molecular weight of greater than 500 kDa. It binds INTERMEDIATE FILAMENTS; MICROTUBULES; and ACTIN CYTOSKELETON and plays a central role in the organization and stability of the CYTOSKELETON. Plectin is phosphorylated by CALMODULIN KINASE; PROTEIN KINASE A; and PROTEIN KINASE C.Genetic Therapy: Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.Consanguinity: The magnitude of INBREEDING in humans.Connectin: A giant elastic protein of molecular mass ranging from 2,993 kDa (cardiac), 3,300 kDa (psoas), to 3,700 kDa (soleus) having a kinase domain. The amino- terminal is involved in a Z line binding, and the carboxy-terminal region is bound to the myosin filament with an overlap between the counter-connectin filaments at the M line.Muscle Development: Developmental events leading to the formation of adult muscular system, which includes differentiation of the various types of muscle cell precursors, migration of myoblasts, activation of myogenesis and development of muscle anchorage.Regeneration: The physiological renewal, repair, or replacement of tissue.Reflex Sympathetic Dystrophy: A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Muscle Weakness: A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)Diaphragm: The musculofibrous partition that separates the THORACIC CAVITY from the ABDOMINAL CAVITY. Contraction of the diaphragm increases the volume of the thoracic cavity aiding INHALATION.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Muscle Strength: The amount of force generated by MUSCLE CONTRACTION. Muscle strength can be measured during isometric, isotonic, or isokinetic contraction, either manually or using a device such as a MUSCLE STRENGTH DYNAMOMETER.Vitelliform Macular Dystrophy: Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Myositis: Inflammation of a muscle or muscle tissue.Myostatin: A growth differentiation factor that is a potent inhibitor of SKELETAL MUSCLE growth. It may play a role in the regulation of MYOGENESIS and in muscle maintenance during adulthood.Mice, Inbred C57BLGenes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Lamins: Nuclear matrix proteins that are structural components of the NUCLEAR LAMINA. They are found in most multicellular organisms.Satellite Cells, Skeletal Muscle: Elongated, spindle-shaped, quiescent myoblasts lying in close contact with adult skeletal muscle. They are thought to play a role in muscle repair and regeneration.Dependovirus: A genus of the family PARVOVIRIDAE, subfamily PARVOVIRINAE, which are dependent on a coinfection with helper adenoviruses or herpesviruses for their efficient replication. The type species is Adeno-associated virus 2.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Cardiomyopathy, Dilated: A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.Electroretinography: Recording of electric potentials in the retina after stimulation by light.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Muscular Atrophy: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.Trinucleotide Repeat Expansion: An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.Muscle Cells: Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (MUSCLE FIBERS, SKELETAL), cardiac (MYOCYTES, CARDIAC), and smooth (MYOCYTES, SMOOTH MUSCLE). They are derived from embryonic (precursor) muscle cells called MYOBLASTS.Myotonic Disorders: Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.Homozygote: An individual in which both alleles at a given locus are identical.Glycosylation: The chemical or biochemical addition of carbohydrate or glycosyl groups to other chemicals, especially peptides or proteins. Glycosyl transferases are used in this biochemical reaction.Myoblasts, Skeletal: Precursor cells destined to differentiate into skeletal myocytes (MYOCYTES, SKELETAL).Creatine Kinase, MM Form: An isoenzyme of creatine kinase found in the MUSCLE.Mannosyltransferases: Enzymes that catalyze the transfer of mannose from a nucleoside diphosphate mannose to an acceptor molecule which is frequently another carbohydrate. The group includes EC 22.214.171.124, EC 126.96.36.199, EC 188.8.131.52, and EC 184.108.40.206.Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.N-Acetylglucosaminyltransferases: Enzymes that catalyze the transfer of N-acetylglucosamine from a nucleoside diphosphate N-acetylglucosamine to an acceptor molecule which is frequently another carbohydrate. EC 2.4.1.-.Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Syndrome: A characteristic symptom complex.Retinal Degeneration: A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)Poly(A)-Binding Protein I: A poly(A) binding protein that has a variety of functions such as mRNA stabilization and protection of RNA from nuclease activity. Although poly(A) binding protein I is considered a major cytoplasmic RNA-binding protein it is also found in the CELL NUCLEUS and may be involved in transport of mRNP particles.Membrane Glycoproteins: Glycoproteins found on the membrane or surface of cells.Morpholinos: Synthetic analogs of NUCLEIC ACIDS composed of morpholine ring derivatives (MORPHOLINES) linked by phosphorodimidates. One standard DNA nucleic acid base (ADENINE; GUANINE; CYTOSINE; OR THYMINE) is bound to each morpholine ring.Genetic Counseling: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Oxepins: Compounds based on a 7-membered heterocyclic ring including an oxygen. They can be considered a medium ring ether. A natural source is the MONTANOA plant genus. Some dibenzo-dioxepins, called depsidones, are found in GARCINIA plants.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Integrin alpha Chains: The alpha subunits of integrin heterodimers (INTEGRINS), which mediate ligand specificity. There are approximately 18 different alpha chains, exhibiting great sequence diversity; several chains are also spliced into alternative isoforms. They possess a long extracellular portion (1200 amino acids) containing a MIDAS (metal ion-dependent adhesion site) motif, and seven 60-amino acid tandem repeats, the last 4 of which form EF HAND MOTIFS. The intracellular portion is short with the exception of INTEGRIN ALPHA4.Codon, Nonsense: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.Pregnenediones: Unsaturated pregnane derivatives containing two keto groups on side chains or ring structures.Evans Blue: An azo dye used in blood volume and cardiac output measurement by the dye dilution method. It is very soluble, strongly bound to plasma albumin, and disappears very slowly.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Retinitis Pigmentosa: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.Distal Myopathies: A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.Nuclear Envelope: The membrane system of the CELL NUCLEUS that surrounds the nucleoplasm. It consists of two concentric membranes separated by the perinuclear space. The structures of the envelope where it opens to the cytoplasm are called the nuclear pores (NUCLEAR PORE).Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Muscle Contraction: A process leading to shortening and/or development of tension in muscle tissue. Muscle contraction occurs by a sliding filament mechanism whereby actin filaments slide inward among the myosin filaments.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Caveolins: The main structural proteins of CAVEOLAE. Several distinct genes for caveolins have been identified.Epidermolysis Bullosa Simplex: A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Myocardium: The muscle tissue of the HEART. It is composed of striated, involuntary muscle cells (MYOCYTES, CARDIAC) connected to form the contractile pump to generate blood flow.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Cardiotoxins: Agents that have a damaging effect on the HEART. Such damage can occur from ALKYLATING AGENTS; FREE RADICALS; or metabolites from OXIDATIVE STRESS and in some cases is countered by CARDIOTONIC AGENTS. Induction of LONG QT SYNDROME or TORSADES DE POINTES has been the reason for viewing some drugs as cardiotoxins.Chromosome Deletion: Actual loss of portion of a chromosome.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury.Contracture: Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.Fluorescent Antibody Technique: Test for tissue antigen using either a direct method, by conjugation of antibody with fluorescent dye (FLUORESCENT ANTIBODY TECHNIQUE, DIRECT) or an indirect method, by formation of antigen-antibody complex which is then labeled with fluorescein-conjugated anti-immunoglobulin antibody (FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT). The tissue is then examined by fluorescence microscopy.Genetic Vectors: DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Nitric Oxide Synthase Type I: A CALCIUM-dependent, constitutively-expressed form of nitric oxide synthase found primarily in NERVE TISSUE.Glycosyltransferases: Enzymes that catalyze the transfer of glycosyl groups to an acceptor. Most often another carbohydrate molecule acts as an acceptor, but inorganic phosphate can also act as an acceptor, such as in the case of PHOSPHORYLASES. Some of the enzymes in this group also catalyze hydrolysis, which can be regarded as transfer of a glycosyl group from the donor to water. Subclasses include the HEXOSYLTRANSFERASES; PENTOSYLTRANSFERASES; SIALYLTRANSFERASES; and those transferring other glycosyl groups. EC 2.4.Tandem Repeat Sequences: Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Scoliosis: An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)Oligoribonucleotides, Antisense: Short fragments of RNA that are used to alter the function of target RNAs or DNAs to which they hybridize.Neuromuscular Junction: The synapse between a neuron and a muscle.Transgenes: Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES.Fundus Oculi: The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)Sarcomeres: The repeating contractile units of the MYOFIBRIL, delimited by Z bands along its length.Corneal Dystrophy, Juvenile Epithelial of Meesmann: An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Eugenics: The attempt to improve the PHENOTYPES of future generations of the human population by fostering the reproduction of those with favorable phenotypes and GENOTYPES and hampering or preventing BREEDING by those with "undesirable" phenotypes and genotypes. The concept is largely discredited. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)Costameres: STRIATED MUSCLE cell components which anchor the MYOFIBRILS from the Z-bands to the SARCOLEMMA and EXTRACELLULAR MATRIX. Costameric proteins include the proteins of FOCAL ADHESIONS.MyoglobinuriaCollagen Type VIII: A non-fibrillar collagen originally found in DESCEMET MEMBRANE. It is expressed in endothelial cell layers and in tissues undergoing active remodeling. It is heterotrimer comprised of alpha1(VIII) and alpha2(VIII) chains.Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.Dogs: The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)Lipodystrophy: A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy.Glycerol Kinase: An enzyme that catalyzes the formation of glycerol 3-phosphate from ATP and glycerol. Dihydroxyacetone and L-glyceraldehyde can also act as acceptors; UTP and, in the case of the yeast enzyme, ITP and GTP can act as donors. It provides a way for glycerol derived from fats or glycerides to enter the glycolytic pathway. EC 220.127.116.11.Oligonucleotides, Antisense: Short fragments of DNA or RNA that are used to alter the function of target RNAs or DNAs to which they hybridize.Founder Effect: A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Tissue-selective expression of alpha-dystrobrevin is determined by multiple promoters. (1/670)alpha-Dystrobrevin, the mammalian orthologue of the Torpedo 87-kDa postsynaptic protein, is a dystrophin-associated and dystrophin-related protein. Knockout of the gene in the mouse results in muscular dystrophy. The control of the alpha-dystrobrevin gene in the various tissues is therefore of interest. Multiple dystrobrevin isoforms differing in their domain content are generated by alternative splicing of a single gene. The data presented here demonstrate that expression of alpha-dystrobrevin from three promoters, that are active in a tissue-selective manner, also plays a role in the function of the protein in different tissues. The most proximal promoter A is active in brain and to a lesser extent in lung, whereas the most distal promoter B, which possesses several Sp1 binding sites, is restricted to brain. Promoter C, which contains multiple consensus myogenic binding sites, is up-regulated during in vitro myoblast differentiation. Interestingly, the organization and the activity of the alpha-dystrobrevin promoters is reminiscent of those in the dystrophin gene. Taken together we suggest that the multipromoter system, distributed over a region of 270 kilobases at the 5'-end of the alpha-dystrobrevin gene, has been developed to allow the regulation of this gene in different cell types and/or different developmental stages. (+info)
Hindlimb immobilization applied to 21-day-old mdx mice prevents the occurrence of muscle degeneration. (2/670)Dystrophin-deficient skeletal muscles of mdx mice undergo their first rounds of degeneration-regeneration at the age of 14-28 days. This feature is thought to result from an increase in motor activity at weaning. In this study, we hypothesize that if the muscle is prevented from contracting, it will avoid the degenerative changes that normally occur. For this purpose, we developed a procedure of mechanical hindlimb immobilization in 3-wk-old mice to restrain soleus (Sol) and extensor digitorum longus (EDL) muscles in the stretched or shortened position. After a 14-day period of immobilization, the striking feature was the low percentage of regenerated (centronucleated) myofibers in Sol and EDL muscles, regardless of the length at which they were fixed, compared with those on the contralateral side (stretched Sol: 8.4 +/- 6.5 vs. 46.6 +/- 10.3%, P = 0.0008; shortened Sol: 1.2 +/- 1.6 vs. 50.4 +/- 16.4%, P = 0.0008; stretched EDL: 05 +/- 0.5 vs. 32.9 +/- 17.5%, P = 0. 002; shortened EDL: 3.3 +/- 3.1 vs. 34.7 +/- 11.1%, P = 0.002). Total numbers of myofibers did not change with immobilization. This study shows that limb immobilization prevents the occurrence of the first round of myofiber necrosis in mdx mice and suggests that muscle contractions play a role in the skeletal muscle degeneration of dystrophin-deficient mdx mouse muscles. (+info)
Increased calcium entry into dystrophin-deficient muscle fibres of MDX and ADR-MDX mice is reduced by ion channel blockers. (3/670)1. Single fibres were enzymatically isolated from interosseus muscles of dystrophic MDX mice, myotonic-dystrophic double mutant ADR-MDX mice and C57BL/10 controls. The fibres were kept in cell culture for up to 2 weeks for the study of Ca2+ homeostasis and sarcolemmal Ca2+ permeability. 2. Resting levels of intracellular free Ca2+, determined with the fluorescent Ca2+ indicator fura-2, were slightly higher in MDX (63 +/- 20 nM; means +/- s.d.; n = 454 analysed fibres) and ADR-MDX (65 +/- 12 nM; n = 87) fibres than in controls (51 +/- 20 nM; n = 265). 3. The amplitudes of electrically induced Ca2+ transients did not differ between MDX fibres and controls. Decay time constants of Ca2+ transients ranged between 10 and 55 ms in both genotypes. In 50 % of MDX fibres (n = 68), but in only 20 % of controls (n = 54), the decay time constants were > 35 ms. 4. Bath application of Mn2+ resulted in a progressive quench of fura-2 fluorescence emitted from the fibres. The quench rate was about 2 times higher in MDX fibres (3.98 +/- 1.9 % min-1; n = 275) than in controls (2.03 +/- 1.4 % min-1; n = 204). The quench rate in ADR-MDX fibres (2.49 +/- 1.4 % min-1; n = 87) was closer to that of controls. 5. The Mn2+ influx into MDX fibres was reduced to 10 % by Gd3+, to 19 % by La3+ and to 47 % by Ni2+ (all at 50 microM). Bath application of 50 microM amiloride inhibited the Mn2+ influx to 37 %. 6. We conclude that in isolated, resting MDX muscle fibres the membrane permeability for divalent cations is increased. The presumed additional influx of Ca2+ occurs through ion channels, but is well compensated for by effective cellular Ca2+ transport systems. The milder dystrophic phenotype of ADR-MDX mice is correlated with a smaller increase of their sarcolemmal Ca2+ permeability. (+info)
Dynamics of myoblast transplantation reveal a discrete minority of precursors with stem cell-like properties as the myogenic source. (4/670)Myoblasts, the precursors of skeletal muscle fibers, can be induced to withdraw from the cell cycle and differentiate in vitro. Recent studies have also identified undifferentiated subpopulations that can self-renew and generate myogenic cells (Baroffio, A., M. Hamann, L. Bernheim, M.-L. Bochaton-Pillat, G. Gabbiani, and C.R. Bader. 1996. Differentiation. 60:47-57; Yoshida, N., S. Yoshida, K. Koishi, K. Masuda, and Y. Nabeshima. 1998. J. Cell Sci. 111:769-779). Cultured myoblasts can also differentiate and contribute to repair and new muscle formation in vivo, a capacity exploited in attempts to develop myoblast transplantation (MT) for genetic modification of adult muscle. Our studies of the dynamics of MT demonstrate that cultures of myoblasts contain distinct subpopulations defined by their behavior in vitro and divergent responses to grafting. By comparing a genomic and a semiconserved marker, we have followed the fate of myoblasts transplanted into muscles of dystrophic mice, finding that the majority of the grafted cells quickly die and only a minority are responsible for new muscle formation. This minority is behaviorally distinct, slowly dividing in tissue culture, but rapidly proliferative after grafting, suggesting a subpopulation with stem cell-like characteristics. (+info)
Extensive but coordinated reorganization of the membrane skeleton in myofibers of dystrophic (mdx) mice. (5/670)We used immunofluorescence techniques and confocal imaging to study the organization of the membrane skeleton of skeletal muscle fibers of mdx mice, which lack dystrophin. beta-Spectrin is normally found at the sarcolemma in costameres, a rectilinear array of longitudinal strands and elements overlying Z and M lines. However, in the skeletal muscle of mdx mice, beta-spectrin tends to be absent from the sarcolemma over M lines and the longitudinal strands may be disrupted or missing. Other proteins of the membrane and associated cytoskeleton, including syntrophin, beta-dystroglycan, vinculin, and Na,K-ATPase are also concentrated in costameres, in control myofibers, and mdx muscle. They also distribute into the same altered sarcolemmal arrays that contain beta-spectrin. Utrophin, which is expressed in mdx muscle, also codistributes with beta-spectrin at the mutant sarcolemma. By contrast, the distribution of structural and intracellular membrane proteins, including alpha-actinin, the Ca-ATPase and dihydropyridine receptors, is not affected, even at sites close to the sarcolemma. Our results suggest that in myofibers of the mdx mouse, the membrane- associated cytoskeleton, but not the nearby myoplasm, undergoes widespread coordinated changes in organization. These changes may contribute to the fragility of the sarcolemma of dystrophic muscle. (+info)
Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex. (6/670)The dystrophin-glycoprotein complex (DGC) is a multisubunit complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. The proteins of the DGC are structurally organized into distinct subcomplexes, and genetic mutations in many individual components are manifested as muscular dystrophy. We recently identified a unique tetraspan-like dystrophin-associated protein, which we have named sarcospan (SPN) for its multiple sarcolemma spanning domains (Crosbie, R.H., J. Heighway, D.P. Venzke, J.C. Lee, and K.P. Campbell. 1997. J. Biol. Chem. 272:31221-31224). To probe molecular associations of SPN within the DGC, we investigated SPN expression in normal muscle as a baseline for comparison to SPN's expression in animal models of muscular dystrophy. We show that, in addition to its sarcolemma localization, SPN is enriched at the myotendinous junction (MTJ) and neuromuscular junction (NMJ), where it is a component of both the dystrophin- and utrophin-glycoprotein complexes. We demonstrate that SPN is preferentially associated with the sarcoglycan (SG) subcomplex, and this interaction is critical for stable localization of SPN to the sarcolemma, NMJ, and MTJ. Our experiments indicate that assembly of the SG subcomplex is a prerequisite for targeting SPN to the sarcolemma. In addition, the SG- SPN subcomplex functions to stabilize alpha-dystroglycan to the muscle plasma membrane. Taken together, our data provide important information about assembly and function of the SG-SPN subcomplex. (+info)
Delineation of genomic deletion in cardiomyopathic hamster. (7/670)Cardiomyopathic hamster is a representative animal model for autosomal recessive cardiomyopathy. We have previously shown that the transcript of delta-sarcoglycan is missing in the heart of cardiomyopathic hamster due to genomic deletion. Here we define the normal genomic region deleted in cardiomyopathic hamster, which spans about 30 kb interval and includes the two first exons of the delta-sarcoglycan gene. RNA blot analysis using genomic DNA fragments covering the entire deletion as probes failed to detect any transcript other than delta-sarcoglycan in normal hamster heart, suggesting that delta-sarcoglycan is the only transcript defective in the heart of cardiomyopathic hamster. (+info)
Laminin polymerization induces a receptor-cytoskeleton network. (8/670)The transition of laminin from a monomeric to a polymerized state is thought to be a crucial step in the development of basement membranes and in the case of skeletal muscle, mutations in laminin can result in severe muscular dystrophies with basement membrane defects. We have evaluated laminin polymer and receptor interactions to determine the requirements for laminin assembly on a cell surface and investigated what cellular responses might be mediated by this transition. We found that on muscle cell surfaces, laminins preferentially polymerize while bound to receptors that included dystroglycan and alpha7beta1 integrin. These receptor interactions are mediated through laminin COOH-terminal domains that are spatially and functionally distinct from NH2-terminal polymer binding sites. This receptor-facilitated self-assembly drives rearrangement of laminin into a cell-associated polygonal network, a process that also requires actin reorganization and tyrosine phosphorylation. As a result, dystroglycan and integrin redistribute into a reciprocal network as do cortical cytoskeleton components vinculin and dystrophin. Cytoskeletal and receptor reorganization is dependent on laminin polymerization and fails in response to receptor occupancy alone (nonpolymerizing laminin). Preferential polymerization of laminin on cell surfaces, and the resulting induction of cortical architecture, is a cooperative process requiring laminin- receptor ligation, receptor-facilitated self-assembly, actin reorganization, and signaling events. (+info)
Duchenne muscular dystrophy (DMD) is a recessive X-linked lethal condition which affects a boy in every 3300 births. It is caused by the absence of dystrophin, a protein occurring especially within the musculoskeletal system and in neurons in specific regions of the central nervous system (CNS). Growth hormone (GH) inhibition is believed to decrease the severity of DMD and could perhaps be used in its treatment. However, the underlying pathological mechanism is not known. The golden retriever muscular dystrophy dog (GRMD) represents an animal model in the study of DMD. In this paper we investigated the morphological aspects of the adenohypophysis as well as the total number and size of GH-granulated cells using design-based stereological methods in a limited number of dystrophic and healthy golden retrievers. GH-cells were larger (32.4%) in dystrophic dogs than in healthy animals (p=0.01) and they occupied a larger portion (62.5%) of the adenohypophysis volume (p=0.01) without changes in either ...
Spargo, E; Pratt, O E.; and Daniel, P M., "The effects of murine muscular dystrophy on the metabolic and homeostatic functions of the skeletal muscles." (1979). Subject Strain Bibliography 1979. 3092 ...
Semantic Scholar extracted view of [The dystrophic process in the central and peripheral nervous systems in relation to acute poisoning by phospho-organic compounds]. by A. P. Shcherbakov
All individuals in a Swedish county afflicted with any type of hereditary muscular dystrophy (MD) were identified and 57 (85 percent) of eligible individuals in the age range 16 to 64 were included in the study. Respiratory disturbances were estimated by means of spirometry and analysis of arterial blood gases, and 58 percent yielded abnormal results on at least one of these examinations. Elevated PCO2 was found more commonly than reduced forced vital capacity (FVC) and there was a moderate association between these parameters. Respiratory symptoms, most commonly breathlessness, were encountered in 79 percent. Pathologic ECG recordings were found in 21 individuals (37 percent). Conduction disturbances and affection of the myocard were most frequent in myotonic dystrophy. Quality of life was assessed by means of the Sickness Impact Profile instrument and the Kaasa test. The results showed that quality of life was significantly related to FVC and to the symptom of abnormal fatigue. Respiratory and ...
1. The dose of pentobarbitone required for anaesthesia was significantly greater for dystrophic hamsters than for normal animals.. 2. Serum creatine kinase activity was significantly higher in dystrophic than in normal hamsters.. 3. Brain, heart and tibialis anterior muscle from dystrophic animals contained significantly less creatine kinase than the normal tissues.. 4. Creatine kinase in normal and dystrophic sera, as in skeletal muscles, consisted of MM isoenzyme. Heart creatine kinase consisted of both MM and MB types and brain contained only the BB isoenzyme.. 5. Pentobarbitone raised serum creatine kinase activity of normal and dystrophic hamsters to the same extent, elevation of enzyme activity being dependent on the amount of pentobarbitone injected.. 6. The sera of pentobarbitone-treated normal and dystrophic hamsters contained only the MM isoenzyme.. ...
Because of special circumstances present in Utah a study has been initiated which has as its object the investigation of diseases of muscle, especially progressive muscular dystrophy. Dr. Samuel C. Baldwin, an orthopedist recently deceased at the age of 90, initiated the local interest in this disorder. Dr. Baldwin himself studied a number of patients and with Dr. Fayette E. Stephens made valuable observations concerning the inheritance of this condition. The total incidence of dystrophy and other diseases of muscle in the area is unknown but there are many cases of muscular dystrophy in the local population. No data are ...
ABCG2, ATP-binding cassette, sub-family G (WHITE), member 2; ALP, alkaline phosphatase; αsg, α-sarcoglycan; bg, natural killer (NK) cell-deficient mice (beige); BM, bone marrow; BMD, Becker muscular dystrophy; BMSCs, bone marrow-derived stem cells; BMT, bone marrow transplantation; βsg, β-sarcoglycan; c-MYC, cellular myelocytomatosis oncogene; cDNA, complementary DNA; Cxcr4, chemokine (C-X-C motif) receptor 4; DMD, Duchenne muscular dystrophy; ESCs, embryonic stem cells; FACS, fluorescence-activated cell sorting; Flk1, fetal liver kinase 1; GFP, green fluorescent protein; GLP-GMP, good laboratory practice-good manufacturing practice; GRMD, Golden Retriever muscular dystrophy; Gy, Gray (unit); HCT, haemopoietic cell transplantation; hMADS, human multi-potent adipose-derived stem cells; HLA, human leukocyte antigen; Hmgb1, high mobility group box 1; IGF1, Insulin-like growth factor 1; iPS, induced pluripotent stem cells; KLF4, Kruppel-like factor 4; KO, knockout; KSN, mice strain with high ...
Matheson, D W., "Evidence against a lymphocyte-mediated autoimmune etiology for murine muscular dystrophy." (1974). Subject Strain Bibliography 1974. 1360 ...
Objective: The aim of this study was to establish three-dimensional cultures originating from muscle biopsies and evaluate the viability and morphology. Method: Muscle biopsies from patients with suspected neuromuscular disorders were obtained and established as primary muscle tissue cultures. Tissue pieces, 1-2 mm of diameters, were placed in culture medium and subjected to sporadic stirring to prevent attachment and outgrowth as monolayer cells. Morphology and ability to attach to the surface were investigated by light microscopy. Viability was evaluated by Tc-99m-tetrofosmin uptake. After 1 month, histology was evaluated by light microscopy and immunocytochemistry. The findings of a healthy muscle and a dystrophic muscle were compared. Results: Initially, the tissue pieces were unshaped but formed spheroid-like structures during the culture period. For dystrophic muscle, attachment capacity to the surface was initially potent and decreased during the culture period, whereas control muscle ...
As a target for gene therapy, Duchenne muscular dystrophy (DMD) presents many obstacles but also an unparalleled prospect for correction by alternative splicing. The majority of mutations in the dystrophin gene occur in the region encoding the spectrin-like central rod domain, which is largely dispensable. Thus, splicing around mutations can generate a shortened but in-frame transcript, permitting translation of a partially functional dystrophin protein. We have tested this idea in vivo in the mdx dystrophic mouse (carrying a mutation in exon 23 of the dystrophin gene) by combining a potent transfection protocol with a 2-O-methylated phosphorothioated antisense oligoribonucleotide (2OMeAO) designed to promote skipping of the mutated exon*. The treated mice show persistent production of dystrophin at normal levels in large numbers of muscle fibers and show functional improvement of the treated muscle. Repeated administration enhances dystrophin expression without eliciting immune responses. Our ...
Led by Queen Mary University of London and published in the Journal of Experimental Medicine, the study provides the first proof of concept that manipulating the activity of this gene enhances the regeneration of the dystrophic muscle to a level where strength is visibly improved. For example, the mice were able to run on a treadmill for a longer time period and at a faster pace. This line of research will now be further developed and scientists aim to one day apply the treatment to patients with chronic muscle wasting such as muscular dystrophy.. Muscular dystrophy is a devastating and incurable condition. Duchenne Muscular Dystrophy - the deadliest form of the muscle-wasting disease - is caused by mutations in a gene which eventually cause muscle fibres to become damaged and waste away.. Duchenne Muscular Dystrophy is characterised by repeated cycles of muscle damage and repair, resulting in exhaustion of the muscle repair cells. It affects one in 3,500 boys and normally proves fatal by early ...
Mutations in the genes coding for either dystrophin or dysferlin cause distinct forms of muscular dystrophy. Dystrophin links the cytoskeleton to the sarcolemma through direct interaction with β-dystroglycan. This link extends to the extracellular matrix by β-dystroglycans interaction with α-dystroglycan, which binds extracellular matrix proteins, including laminin α2, agrin and perlecan, that possess laminin globular domains. The absence of dystrophin disrupts this link, leading to compromised muscle sarcolemmal integrity. Dysferlin, on the other hand, plays an important role in the Ca2+-dependent membrane repair of damaged sarcolemma in skeletal muscle. Because dysferlin and dystrophin play different roles in maintaining muscle cell integrity, we hypothesized that disrupting sarcolemmal integrity with dystrophin deficiency would exacerbate the pathology in dysferlin-null mice and allow further characterization of the role of dysferlin in skeletal muscle. To test our hypothesis, we generated
Muscular dystrophy - MedHelps Muscular dystrophy Center for Information, Symptoms, Resources, Treatments and Tools for Muscular dystrophy. Find Muscular dystrophy information, treatments for Muscular dystrophy and Muscular dystrophy symptoms.
|p| Muscular dystrophy represents a group of more than 30 inherited diseases that are characterized by muscle weakness and loss of muscle mass over time caused by genetic alterations. Even though more than 30 years have passed since the discovery of the first protein involved in a type of muscular dystrophy, there is no cure for these conditions yet.|br /| |br /| This book aims to provide an overview of the recent advances in the muscular dystrophy field addressing the cellular and molecular basis of muscular dystrophy, signaling pathways involved in skeletal muscle remodeling, miRNA profiling, serum, inflammatory and regenerative biomarkers. This book will discuss the currently available and innovative molecular techniques used for muscular dystrophy diagnosis (muscle biopsy, multiplex ligation-dependent probe amplification (MLPA), CGH-array, next-generation sequencing) as well as newest therapeutic approaches for different types of muscular dystrophies.|/p| |p| This book will be of great
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The Golden Retriever is a large-sized breed of dog bred as gun dogs to retrieve shot waterfowl such as ducks and upland game birds during hunting and shooting parties, and were named retriever because of their ability to retrieve shot game undamaged. Golden Retrievers have an instinctive love of water, and are easy to train to basic or advanced obedience standards. They are a long-coated breed, with a dense inner coat that provides them with adequate warmth in the outdoors, and an outer coat that lies flat against their bodies and repels water. Golden Retrievers are well suited to residency in suburban or country environments. Although they need substantial outdoor exercise, they should be housed in a fenced area because of their instinctual tendency to roam. They shed copiously, particularly at the change of seasons, and require fairly regular grooming. The breed is a prominent participant in conformation shows for purebred dogs. The Golden Retriever is popular as a disability assistance dog ...
A search for a quality Golden Retriever to handle in junior showmanship led Liz Bultman to breeder Rhonda Hovan. As they got acquainted by e-mails, Hovan was impressed that Bultman wanted to be sure that Hovan would not require her to neuter or spay the dog at an early age.. The possible health effects of early spaying and neutering is a topic Hovan, the research facilitator for the Golden Retriever Club of America, holds close to her heart. "For years when I looked at adult dogs that Id bred, I saw marked physical differences between those sold as show prospects and those sold as pets," says Hovan, of Akron, Ohio, who has bred Golden Retrievers under the Faera prefix for more than 40 years. "The dogs sold as pets were tall and lanky, with no bone and pointy muzzles. Id look at them and wonder how they got so tall.". To read the whole article download using the button above!. ...
The muscular dystrophies are a group of genetic diseases that severely affect children and adults. For sufferers and their family, the illness presents enormous physical and psychological challenges. Written specifically for people with muscular dystrophy and their families, this new edition of Muscular dystrophy: the facts answers many of the questions asked about how and why it occurs, and how it will affect the life of a recently diagnosed child. Throughout, the different types of muscular dystrophy are described with a minimum of technical jargon. Questions relating to exercise, physiotherapy, surgery, and the emotional effects of the diseases are answered, and advice given on the problems of schooling and choice of career. Since publication of the 1st edition, the genes for almost all the different types of dystrophy have been identified, enabling prevention through genetic counselling, and relieving some of the worry for affected families. Drawn from his many years of experience treating ...
Predoctoral and Postdoctoral Positions Available Application Deadline:. Friday, May 6, 2016 (5pm PST) The training program is open to any UCLA predoctoral (Ph.D. graduate student) or postdoctoral fellow who is a US citizen or permanent resident and whose research interest focuses on muscle cell biology and disease with an emphasis on muscular dystrophy. Muscle cell biology is an area of exciting growth in translational medicine. The muscular dystrophies are a clinically and genetically heterogeneous group of conditions characterized by progressive muscle degeneration. Translational research in the muscular dystrophies is expanding, as academic and industry partnerships yield new potential treatments that are currently being assessed in clinics around the world. The goal of the Muscle Cell Biology, Pathophysiology, and Therapeutics program is to capitalize on the momentum that arose from this explosion of translational research. The training program will capitalize on and bridge the talents of ...
The requirement of muscle damage for effective delivery and AON induced dystro-phin expression is further supported by the result obtained in the cardiac muscle in the mdx mice after systemic treatment of both 2OMePS AON and PMO. Cardiac muscles in mdx mice are less affected by the dystrophic process and no significant pathology and functional impairment can be obviously demonstrated until late age. Consistently, only minimum amount of dystrophin expression can be detected in the cardiac muscle even after repeated injections of both 2OMePS AON and PMO in all mdx mice aged 6 months or younger (Lu et al. 2005; Alter et al. 2006), whereas the same treatment can induce high levels of dystrophin in skeletal muscles. There is a possibility that the special tissue structure (vasculature and membrane) and pattern of metabolism or gene expression regulation could be responsible for lower efficiency of AON delivery or exon skipping inside myonuclei. However, direct injection of AON into cardiac muscles ...
Muscular Dystrophy What is muscular dystrophy? Muscular dystrophy (MD) is a broad term that describes a genetic (inherited) disorder of the muscles. Muscular dystrophy causes the muscles in the body to become very weak. The muscles break down and are replaced with fatty deposits over time. Other health problems commonly associated with muscular dystrophy include the following: Heart problems Scoliosis. A lateral, or sideways, curvature and rotation of the back bones (vertebrae), giving the appearance th...
Duchenne muscular dystrophy (DMD) is a rare, progressive and fatal muscle disease affecting boys and accounts for 80% of muscular dystrophy cases. Tadalafil and sildenafil are medications approved by the FDA for the treatment of erectile dysfunction and pulmonary hypertension. This class of medication improves muscle blood flow in a mouse model of muscular dystrophy, but their benefit to boys with DMD is unknown. The purpose of this study is to 1) determine if tadalafil or sildenafil can improve muscle blood flow during exercise in boys with DMD; and 2) to inform the design of a subsequent, randomized, multi-center trial with clinical endpoints.. The investigators will enroll boys with DMD between the ages of 7 and 15 years who are ambulatory and without clinical heart failure. Participants will undergo 6 visits over the course of 5 weeks. The initial visit will include a medical history, physical exam, echocardiogram, and blood draw to determine eligibility for the study. Boys will be given a ...
Duchenne muscular dystrophy (DMD) is a rare, progressive and fatal muscle disease affecting boys and accounts for 80% of muscular dystrophy cases. Tadalafil and sildenafil are medications approved by the FDA for the treatment of erectile dysfunction and pulmonary hypertension. This class of medication improves muscle blood flow in a mouse model of muscular dystrophy, but their benefit to boys with DMD is unknown. The purpose of this study is to 1) determine if tadalafil or sildenafil can improve muscle blood flow during exercise in boys with DMD; and 2) to inform the design of a subsequent, randomized, multi-center trial with clinical endpoints.. The investigators will enroll boys with DMD between the ages of 7 and 15 years who are ambulatory and without clinical heart failure. Participants will undergo 6 visits over the course of 5 weeks. The initial visit will include a medical history, physical exam, echocardiogram, and blood draw to determine eligibility for the study. Boys will be given a ...
The Golden Retriever is a breed that was developed out of necessity. In both Scotland and England bird hunting was a popular sport among the wealthy and something the lower classes depended on for food. It was this wild-fowling that led to a need for a dog skilled in retrieval. The original Goldens are believed to have descended from a yellow retriever purchased by the Scottish Lord Tweedmouth. This dog (named Nous) was used as a hunting dog and eventually bred to a Tweed Water Spaniel in an effort to create a smaller hunting dog. It is said that the puppies that resulted from this first breeding are the puppies that gave rise to every Golden Retriever we have today! This happened through a process of selective breeding with more Tweed Spaniels, Wavy-coated Retrievers, and Red Setters. By 1913, the Golden Retriever was officially recognized as its own breed in Great Britain and by 1925, they were registered as a breed with the AKC. It wouldnt be until the 1930s and 1940s, however, that the ...
Affects disease muscular dystrophy on different muscle groups and causes weakness of the muscles to varying degrees. muscular dystrophy type Duchenne (Duchenne Muscular Dystrophy): is the most common types of muscular dystrophy and the severity of the most part. Affects about one child out of 3,500 males (For girls They are carrying the gene responsible…
1. The functional properties of tibialis anterior muscles of normal adult (C57BL/10) and age-matched dystrophin-deficient (C57BL/10 mdx) mice have been investigated in situ. Comparisons were made between tibialis anterior muscle strength, rates of force development and relaxation, force-frequency responses and fatiguability. Subjecting mdx and C57 muscles to a regimen of eccentric exercise allowed the hypothesis to be tested that dystrophin-deficient muscles are more susceptible to exercise-induced muscle damage.. 2. mdx muscles were, on average, 30% stronger than C57 muscles and almost 80% heavier, but both had similar muscle lengths. Thus, although mdx muscles were stronger in absolute terms, their estimated force per unit cross-sectional area was significantly less than that of C57 muscles.. 3. The force-frequency relationships of C57 and mdx muscles differed in that whilst, at 40 Hz, the former developed 70% of the force developed at 100 Hz, the latter developed only 55% of the maximal ...
Your standards for quality in a golden retriever puppy will depend on whether you are adopting from a rescue or purchasing from a breeder. Either way, the seven ways to find a quality golden retriever puppy are
If you own, or are thinking about owning, a golden retriever, you need to know these golden retriever facts. Plus, get essential tips for golden retriever training and grooming. Were also sharing our favorite dog-friendly gift ideas.
In an attempt to head off the sort of controversy that has followed other companies unforced price raises, the company has also promised that Emflaza will be made free for poorer patients through its assistance program, and its confident that insurance companies will cover the bulk of the drugs costs. "We hope that this treatment option will benefit many patients with DMD".. For the last two decades, patients have been buying deflazacort from other countries ever since clinical trials demonstrated its effectiveness for treating Duchenne muscular dystrophy.. DMD is the most common type of muscular dystrophy. The first symptoms are usually seen between 3 and 5 years of age and worsen over time.. People who have DMD eventually lose the ability to carry out activities on their own and are wheelchair bound by the time they reach their early teen years. As the disease progresses, life-threatening heart and respiratory conditions can occur. It is more common among boys than among girls. Marathon had ...
Fibrosis is a common pathological feature observed in muscle from patients with Duchenne muscular dystrophy (DMD). In the dystrophic (mdx) mouse model of DMD, the diaphragm is more severely affected than other skeletal muscles. The level of transforming growth factor-beta1 (TGF-beta1), an inflammato …
The musculary dystrophies are a group of diseases characterized by progressive degeneration and/or loss of muscle fibers that result in loss of muscle strength. All or nearly all of them have a hereditary origin but details of the type of genetic defect and of the prognosis for the disease vary from type to type. Duchenne muscular dystrophy is the most common form, though there are at least 6 other forms of the disease. Several million people throughout the world have a form of muscular dystrophy. In the United States, it is estimated that 250,000 suffer from a form of muscular dystrophy.
Symptoms of Muscular dystrophy, congenital, type 1C including 12 medical symptoms and signs of Muscular dystrophy, congenital, type 1C, alternative diagnoses, misdiagnosis, and correct diagnosis for Muscular dystrophy, congenital, type 1C signs or Muscular dystrophy, congenital, type 1C symptoms.
Synonyms for enzootic muscular dystrophy in Free Thesaurus. Antonyms for enzootic muscular dystrophy. 2 words related to enzootic: endemic, endemical. What are synonyms for enzootic muscular dystrophy?
Neurofibromatosis (NF) is a genetic disorder that involves the uncontrolled growth of tumors along the nervous system, which can result in terrible disfigurement, deformity, deafness, blindness, brain tumors, cancer and death. NF is the most common neurological disorder caused by a single gene and is more common than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntingtons disease and Tay Sachs combined. Because of NFs close connection to many common diseases and disorders, such as cancer, learning disabilities, heart disease, memory loss, and brain tumors, research on NF stands to benefit 175 million Americans in this generation alone ...
Health, ...The most common form of muscular dystrophy among adults is dystrophia ...When this RNA which contains thousands of CUG nucleotide repeats bui...Enzyme characterisation in muscular dystrophy patients ...The researchers work at the Department of Molecular Biology and Geneti...,New,knowledge,about,muscular,dystrophy,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
LOS ANGELES - When Jay Mesinger heard about a study seeking golden retrievers to help fight canine cancer, he immediately signed up 2-year-old Louie.He and his wife know firsthand the toll of canine cancer: Louie is their fourth golden retriever. The first three died of cancer.They all had long lives but were taken by complications from one kind of cancer or another, said the Boulder, Colo., businessman.For Louie and 2,999 other purebred goldens, it will be the study of a lifetime.
Master your knowledge of the Golden Retriever: discover breed standards, fun facts, breed features assessed and organised by adaptability, health, learning skills, exercise requirements and maintenance cost. Are you ready to adopt an Golden Retriever? Our advice can help you make a choice.
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Abmayr, S., Gregorevic, P., Allen, J.M., and Chamberlain, J.S. (2005). Phenotypic improvement of dystrophic muscles by rAAV/microdystrophin vectors is augmented by Igf1 codelivery. Mol Ther 12, 441-450.. Ahn, A.H., and Kunkel, L.M. (1993). The structural and functional diversity of dystrophin. Nat Genet 3, 283-291.. Allocca, M., Doria, M., Petrillo, M., Colella, P., Garcia-Hoyos, M., Gibbs, D., Kim, S.R., Maguire, A., Rex, T.S., Di Vicino, U., et al. (2008). Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. J Clin Invest 118, 1955-1964.. Alter, J., Lou, F., Rabinowitz, A., Yin, H., Rosenfeld, J., Wilton, S.D., Partridge, T.A., and Lu, Q.L. (2006). Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology. Nat Med 12, 175-177.. American Academy of Pediatrics. (2005). Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular ...
Cerebral Pasy Vs. Muscular Dystrophy Essay, Research Paper Muscular dystrophy is a rare inherited muscle disease in which the muscle fibers are unusually susceptible to damage. The muscles, primarily the voluntary muscles, become progressively weaker. In the late stages of muscular dystrophy, muscle fibers often are replaced by fat and connective tissue.
Summary Global Markets Directs latest Pharmaceutical and Healthcare disease pipeline guide Muscular Dystrophy - Pipeline Review, H2 2016, provides an overview of the Muscular Dystrophy (Musculoskeletal Disorders) pipeline landscape. Muscular dystrophy is a group of diseases in which muscle fibers are unusually susceptible to damage. These damaged muscles become progressively weaker. Symptoms
Muscular Dystrophy is a group of more than 30 inherited disorders that cause the muscles to gradually weaken and break down. Our revolutionizing stem cell therapy helps stabilize muscular dystrophy symptoms and slow down progression of the disease
Lipid mapping in human dystrophic muscle by cluster-time-of-flight secondary ion mass spectrometry imaging.. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
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For the Muscular Dystrophy Association, the go-ahead for a targeted drug offers tangible hope to patients with Duchenne muscular dystrophy.
The current update of the report on Prevalence or reported number of published cases listed in alphabetical order of disease lists FSHD as occurring in approximately 7 out of 100,000 individuals. This is compared to 5 out of 100,000 individuals for Duchenne and Becker muscular dystrophy, formerly considered the most prevalent form of muscular dystrophy.
UCL Discovery is UCLs open access repository, showcasing and providing access to UCL research outputs from all UCL disciplines.
Muscular dystrophy is a group of more than 30 diseases that involve breakdown of the skeletal muscles. When a child has muscular dystrophy, his muscle tissue weakens and wastes away.
Is your kid complaining muscle pain at night? Or has he been diagnosed with muscular dystrophy? Read about muscle pain and muscular dystrophy in children.
Edgar Cayce Health Database Overview Muscular Dystrophy The muscular dystrophies may be defined as a group of primary, muscular wasting degenerative diseases, characterized by progressive muscular wasting and weakness, and occurring usually in the first three decades of life. The muscular abnormalities are always associated with organic disturbances, varied and widespread.
"Animal Models - Parent Project Muscular Dystrophy". www.parentprojectmd.org. Retrieved 2016-05-03. ... The mdx mouse is a popular model for studying Duchenne muscular dystrophy (DMD). The mdx mouse has a point mutation in its DMD ...
2008 DPSC 1st animal studies begin for heart therapies. 2008 IDPSC 1st animal study began for muscular dystrophy therapies. ... 2007 DPSC 1st animal studies begin for bone regeneration. 2007 DPSC 1st animal studies begin for dental end uses. ... 2008 DPSC 1st animal studies begin for regenerating brain tissue. 2008 DPSC 1st advanced animal study for bone grafting ... "Early transplantation of human immature dental pulp stem cells from baby teeth to golden retriever muscular dystrophy (GRMD) ...
"Cytoplasmic gamma-actin expression in diverse animal models of muscular dystrophy". Neuromuscular Disorders. 17 (7): 569-74. ... "Sorting of a nonmuscle tropomyosin to a novel cytoskeletal compartment in skeletal muscle results in muscular dystrophy". The ... In a skeletal muscle-specific knockout of gamma-actin in mice, these animals showed no detectable abnormalities in development ...
"The International Animal Welfare Science Society. Retrieved 2019-10-30.. *^ Martin, P. T.; et al. (2008). "Muscular dystrophy ... Congenital Myasthenic Syndrome (CMS) (previously referred to as Muscular Dystrophy, Myopathy or Spasticity) is a type inherited ... "animal.discovery.com. Animal Planet (Discovery Communications). 2008-09-10. Retrieved 2010-10-26.. ... Thanks to various breeding efforts, their lineages resulted in the affectionate animal we love today.. ...
... was used to ameliorate the effects of muscular dystrophy in golden retrievers with a congenital muscular dystrophy. The dogs ... given allogeneic cells survived; control animals died within 1 year. Pericyte Mesoderm Endothelium Cossu, G; Bianco, P (2003 ... Recent work has suggested their application for stem cell therapies for muscular dystrophy. Experiments in alpha-sarcoglycan ...
... is being studied in Phase II clinical trials as a treatment for congenital/juvenile-onset myotonic muscular dystrophy type I. ... In 2016, the results of animal studies were reported in which 0.14 mm holes in mouse teeth were permanently filled. Tideglusib ...
Duchenne muscular dystrophy, and other cardiovascular diseases. Gadolinium (Gd3+) and other lanthanides have been shown to ... They have been found to be used for volume sensing in animals and blood pressure regulation. Bacteria have been shown to ... Atrial fibrillation Abnormalities in the function of MS channels can cause: Neuronal disease Muscular degeneration. Cardiac ... other types of MSCs are probably the basis of the senses of hearing and touch and sense the stress needed for muscular ...
... is a drug which may serve as a vehicle for gene therapy, in the treatment of Duchenne and Becker muscular dystrophy ... is currently being investigated with the use of both canine and primate animal models. Biostrophin is being manufactured by ... with funding provided by the Muscular Dystrophy Association. Ataluren Rimeporide (experimental) Khurdayan VK, Bozzo J, Prous JR ...
Muscular Dystrophy Campaign. "New collaboration to support omigapil clinical trial for congenital muscular dystrophy". ... as well as in rodent and non-rodent animal models of neurodegeneration. Omigapil rescues in vitro PC12 cells from rotenone ... The mouse model of laminin-α2-deficient congenital muscular dystrophy (MDC1A) was found to positively respond to omigapil with ... Miyagoe-Suzuki Y, Nakagawa M, Takeda S (2000). "Merosin and congenital muscular dystrophy". Microsc. Res. Tech. 48 (3-4): 181- ...
Muscular dystrophy Muscle hypertrophy Myostatin-related muscle hypertrophy Superhuman strength GRCh38: Ensembl release 89: ... In both cases the resulting animals were significantly more muscular. However, rabbits without myostatin also exhibited an ... Further research into myostatin and the myostatin gene may lead to therapies for muscular dystrophy. The idea is to introduce ... It remains unclear as to whether long-term treatment of muscular dystrophy with myostatin inhibitors is beneficial, as the ...
... annual hockey game to benefit the Muscular Dystrophy Association. The game is played at the Berglund Center and pits the ... a local organization that operates the largest private animal shelter in the Roanoke Valley, as well as a low cost Community ... Pet Clinic and farm animal sanctuary. Virginia Museum of Transportation- a large museum in Downtown Roanoke that hosts a number ...
... a type of muscular dystrophy. During the operation that was meant to save her life, there was an accident with the Coil that ... She is good at using drones in the form of animals like pigeons and bats. Miyabi Azumaya (四阿屋 雅, Azumaya Miyabi) Voiced by: ...
Foster K, Foster H, Dickson JG (December 2006). "Gene therapy progress and prospects: Duchenne muscular dystrophy". Gene Ther. ... EFSA (2012). Genetically modified animals Europe: EFSA. *^ Murray, Joo (20). Genetically modified animals. Canada: Brainwaving ... and muscular dystrophy.. Conservation use. Genetically modified organisms have been used to conserve European wild rabbits ... genetic modification can also be used to allow the animal to grow human organs inside their body. Such animals, which are hence ...
... spinobulbar muscular atrophy, myotonic dystrophy, dystrophinopathies and other inherited neuromuscular diseases. Other ... applications of flightless flies include using them as convenient feeders for a variety of companion animals and even as test ... A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. J. Cell Biol. 176: ... Flightless fly models have been especially useful for the study of human neuromuscular diseases such as spinal muscular atrophy ...
Electrotransfer of naked DNA in the skeletal muscles of animal models of muscular dystrophies, Gene Ther 8:1097-1107 Daud A, ... and animal cells in vitro and into different tissues, including muscle, tumors, liver, and skin in vivo. Application of ...
Muscular Dystrophy Association, North Texas Food Bank, Phoenix House, The Smile Train, The Wilkinson Center, the Dallas Rotary ... free speech and animal care. The foundation seeks to assist smaller, low-profile organizations, as these groups typically have ... aviation and animal services. These organizations include, Baylor Foundation, Communities Against Violence, Dallas CASA, ...
The nuclear envelopathy with the highest frequency in human populations is Emery-Dreifuss muscular dystrophy caused by an X- ... The nuclear lamina appears to be an adaptation to mobility in animals as sessile organisms such as plants or fungi do not have ... Manilal S, Nguyen TM, Sewry CA, Morris GE (1996). "The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane ... Physical therapy and/or corrective orthopedic surgery may be helpful for patients with muscular dystrophies. Laminopathies ...
Still With Us Muscular Dystrophy Association: Periodic Paralysis (Hyper and Hypo) (humans) GeneReview/NIH/UW entry on ... Until the AQHA restricted the registration of animals with the condition, the spread of the disease was perpetuated by the ... 2014). "Dominant disorders". Animal Genetics. Blackwell Publications. p. 112. ISBN 978-1-118-67740-7. Lynghaug, Fran (2009). " ... and perhaps other animals. It is an inherited autosomal dominant disorder that affects sodium channels in muscle cells and the ...
Duchenne muscular dystrophy and dermatomyositis patients. Animal models are providing valuable insight on MLP's functional ... including facioscapulohumeral muscular dystrophy, nemaline myopathy and limb girdle muscular dystrophy type 2B. Moreover, ... MLP-b ratio have been detected in limb girdle muscular dystrophy type 2A, ... Overall, these animal models have provided critical evidence on the functional significance of MLP in striated muscle ...
... severe burn injury and myotonic muscular dystrophy (MMD). Results of clinical trials evaluating the efficacy of IGF-1 in type 1 ... IGF-1 has also been shown to be effective in animal models of stroke when combined with erythropoietin. Both behavioural and ...
Muscular dystrophy. Caveolin-3 has been implicated in the development of certain types of muscular dystrophy (Limb-girdle ... However, knock-out animals do develop abnormal, hypertrophic lungs, and cardiac myopathy, leading to a reduction in lifespan. ... Galbiati F, Razani B, Lisanti MP (October 2001). "Caveolae and caveolin-3 in muscular dystrophy". Trends Mol Med. 7 (10): 435- ... muscular dystrophy). References. *^ Tang Z, Scherer PE, Okamoto T, Song K, Chu C, Kohtz DS, Nishimoto I, Lodish HF, ...
Similarly, if the forage is of low quality or is not stored properly it may be deficient in vitamin E. If an animal consumes ... Nutritional Muscular Dystrophy (Nutritional Myopathy or White Muscle Disease) is a disease caused by a deficiency of selenium ... Abutarbush, Sameeh M.; Radostits, Otto M. (2017-04-06). "Congenital nutritional muscular dystrophy in a beef calf". The ... In calves, muscles in upper portion of the front legs and the hind legs are degraded, causing the animal to have a stiff gait ...
... osteochondrosis and muscular dystrophy both in large animals, as well as humans. While investigation of cell-based therapeutics ... Similar results have been found in small animals. Osteoarthritis is the main cause of joint pain both in animals and humans. ... Clinical and animal studies have been conducted into the use of stem cells in cases of spinal cord injury. Stems cells are ... Companion animals can serve as clinically relevant models that closely mimic human disease. Veterinary applications of stem ...
The review goes on to state that animal models for LGMD2 have been used to analyse therapeutic medications. Also adding that ... Limb-girdle muscular dystrophy (LGMD) or Erb's muscular dystrophy is a genetically and clinically heterogeneous group of rare ... which will show the presence of muscular dystrophy, and genetic testing is used to determine which type of muscular dystrophy a ... update 2012 MedlinePlus Encyclopedia Limb-girdle muscular dystrophies http://patient.info/doctor/limb-girdle-muscular-dystrophy ...
... deletion of dystroglycan causes long-term potentiation impairment and developmental abnormalities similar to muscular dystrophy ... Members of the neurexin family are found across all animals, including basal metazoans such as porifera (sponges), cnidaria ( ...
"Muscular Dystrophy Association. Archived from the original on 6 August 2018. Retrieved 23 December 2018.. ... in which viruses are used to deliver mutant genes to an animal model, and CRISPR/Cas9, which can be used to give an animal ... spinal muscular atrophy, and spinal and bulbar muscular atrophy can also mimic certain aspects of the disease and should be ... The first animal model for ALS was the SOD1G93A transgenic mouse,[g] which was developed in 1994. It expresses about 20-24 ...
p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy ... p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy ... p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy ... p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy ...
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disease that presents in the fifth or sixth decade with ... Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disease that presents in the fifth or sixth decade with ... Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy ... Muscular Dystrophy, Oculopharyngeal / drug therapy * Muscular Dystrophy, Oculopharyngeal / genetics * Muscular Dystrophy, ...
The cells of the embryo can be tested for such diseases as cystic fibrosis andDuchenne muscular dystrophy, using a technique ... Animal models arebeing used in gene manipulation research in the hope that animals will be able to supply donor organs for ... and muscular dystrophy. While the term eugenics remains to reflect negatively on the modern science of genetics, a more ...
... Francesca Sciandra,1 Maria Giulia Bigotti,2 Bruno ... L. S. Steffen, J. R. Guyon, E. D. Vogel et al., "Zebrafish orthologs of human muscular dystrophy genes," BMC Genomics, vol. 8, ... L. E. Lim, F. Duclos, O. Broux et al., "β-Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to ... R. D. Cohn and K. P. Campbell, "Molecular basis of muscular dystrophies," Muscle & Nerve, vol. 23, no. 10, pp. 1456-1471, 2000. ...
This includes both human and non-human animals, but not all of them can speak for themselves ... Mice Holding Back Muscular Dystrophy Research? - All of Gods creatures have rights, a fact that most people dont seem to ... Mice Holding Back Muscular Dystrophy Research?. From all-creatures.org. Animal Rights Articles ... Mice Holding Back Muscular Dystrophy Research?. From ScienceDaily.com. December 2009. Humans and mice have previously unknown ...
... and reverses the process of muscle-wasting found in muscular dystrophy. ... Gene therapy reaches muscles throughout the body and reverses muscular dystrophy in animal model The gene therapy was able to ... Gene therapy reaches muscles throughout the body and reverses muscular dystrophy in animal model. University of Washington ... National Institutes of Health, Muscular Dystrophy Association, Bruce and Jolene McCaw. Keywords. *BIOCHEMISTRY ...
Using tracer molecules, we compared sarcolemmal integrity in animal models for muscular dystrophy and in muscular dystrophy ... congenital muscular dystrophy. DGC. dystrophin-glycoprotein complex. DMD. Duchenne muscular dystrophy. EBD. Evans blue dye. H&E ... Animal Models for Muscular Dystrophy Show Different Patterns of Sarcolemmal Disruption. Volker Straub, Jill A. Rafael, Jeffrey ... Animal Models for Muscular Dystrophy Show Different Patterns of Sarcolemmal Disruption. Volker Straub, Jill A. Rafael, Jeffrey ...
Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy. ... Facioscapulohumeral muscular dystrophy (FSHD) is characterized by misexpression of the double homeobox 4 (DUX4) developmental ... Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy ... SIGNIFICANCE STATEMENT Facioscapulohumeral muscular dystrophy (FSHD) currently has no treatment options. This work provides ...
Duchenne Muscular Dystrophy Becker Muscular Dystrophy Limb-Girdle Muscular Dystrophy Myotonic Dystrophy ... Facioscapulohumeral Muscular Dystrophy Congenital Muscular Dystrophy Metabolic Diseases of Muscle Acid Maltase Deficiency ... Last Updated on Wed, 06 Apr 2016 , Muscular Dystrophy Table 3.1 shows a list of some of the more common or prototypical ... Table 3.1 Neuromuscular Disorders Affecting Respiratory Muscle Function Muscular Dystrophies. ...
End Breeding of Dogs with Muscular Dystrophy for Animal Testing at French Veterinary School. Posted by Michelle Ahn ... Please urge the French charity Téléthon to stop funding these cruel experiments on dogs and to fund only modern, non-animal ...
Animal Genetics provides genetic testing services for animals including Avian DNA sexing and diseases and inherited Canine and ... Animal Genetics offers DNA testing for Muscular Dystrophy. The genetic test verifies the presence of the X-linked Muscular ... The dog carries two copies of the mutant gene and is homozygous for Muscular Dystrophy. The dog is affected by Muscular ... Muscular Dystrophy. Description:. GRMD is a mutation of the dystrophin gene that causes a deficiency of dystrophin proteins in ...
In muscular dystrophies, however, a failure of the regenerative process results in muscle degeneration and weakness. To analyze ... in an animal model of muscular dystrophy. Biochim Biophys Acta 1573, 216-224 (2002). ... A model for Congenital muscular dystrophy type 1D is the myodystrophy Largemyd mouse, which harbors a mutation in the Large1 ... A good genetic and biochemical model for Duchenne muscular dystrophy is the Dmdmdx mouse that bears a nonsense point mutation ...
... and large-animal models and published in the journal Science Translational Medicine suggests that gene therapy can be used in ... Myotonic Dystrophy. Detailed information on myotonic muscular dystrophy, a common form of muscular disease that affects adults ... Muscular Dystrophy. Overview about muscular dystrophy, a muscle disease characterized by muscle weakness and muscle wasting. ... These results demonstrate the efficacy of gene replacement therapy for myotubular myopathy in animal models and pave the way to ...
Molecular and Cell Biology of Muscular Dystrophy gives a series of accounts of various aspects of the remarkable breakthrough ... Life Sciences Animal Sciences Molecular and Cell Biology of Human Diseases Series Free Preview ... Molecular and Cell Biology of Muscular Dystrophy. Editors. * T. Partridge Series Title. Molecular and Cell Biology of Human ... Molecular and Cell Biology of Muscular Dystrophy gives a series of accounts of various aspects of the remarkable breakthrough ...
Animals and AON injections. All experiments were performed with 5-6 weeks old mdx mice under the approval of the Animal ... Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy Patient Myogenic Regulatory Factor MSTN ... By contrast, Duchenne muscular dystrophy (DMD) is characterized by a loss of muscle fibers and impaired regeneration. In this ... Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder, which is caused by dystrophin deficiency in ...
"Significance of animal experimentation to drug development for muscular dystrophy". Time: 14:00:00 - 15:00:00 ... "Significance of animal experimentation to drug development for muscular dystrophy" Speaker: Yoshitsugu Aoki, MD PhD, Dept of ...
Production of TRPV2-targeting functional antibody ameliorating dilated cardiomyopathy and muscular dystrophy in animal models * ... The ability of a molecule (for example, an antibody) to induce an immune response in a human or other animal. ...
... Maria ... Preclinical studies are essential to establish and verify novel causative treatment approaches for Duchenne muscular dystrophy ... DMD). To facilitate preclinical testing of promising compounds, we established a novel animal pig model of DMD carrying an exon ...
Animal Lover needs your help with "Keep the DMD Golden Retriever research at Texas A&M - Cure Duchenne Muscular Dystrophy". ... Animal Lover needs your help with "Keep the DMD Golden Retriever research at Texas A&M - Cure Duchenne Muscular Dystrophy". ... Duchenne Muscular Dystrophy (DMD) is a fatal genetic disorder affecting mostly boys. Boys with DMD typically lose the ability ... Kornegay to remove the colony of Duchenne Muscular Dystrophy (DMD) golden retrievers from Texas A&M by January 2018, allegedly ...
Animal welfare. *Facts and figures. *Benefits of animal research *Duchenne muscular dystrophy ... Professor Gorecki says: "If we can achieve improvement in the mouse model of Duchenne muscular dystrophy, then there is a good ... Absence of this protein causes a debilitating and incurable Duchenne muscular dystrophy. ... the most common and severe of all muscular dystrophies.. The condition is caused by a lack of dystrophin, a protein which acts ...
A few animal models of Duchenne muscular dystrophy (DMD) are available. Posted by Maurice Prescott on May 8, 2017 ... A few animal models of Duchenne muscular dystrophy (DMD) are available large ones such as pigs or dogs being expensive and ... Materials and Methods Animals This study was approved by the Ethics Committee on Animal SB-505124 Experimentation of the Pays ... Although each animal model has its own limitations they have all been essential for the development of treatment strategies SB- ...
CRISPR gene editing relieves muscular dystrophy symptoms in dogs Scientists have used CRISPRs molecular scissors in beagle ... Animals Naked mole-rats eat the poop of their queen for parenting cues Hormones in the naked mole-rat queens poop turn ... Animals Silver-backed chevrotains have been rediscovered by science after 29 years By Jonathan Lambert. 6 hours ago. ... Animals Manta rays have an unusual mouth filter that resists clogging Manta rays filter feed differently than other ocean ...
See "Severe Toxicity Reported in High-Dose AAV Gene Therapy in Animals". Catherine Offord is an associate editor at The ... Duchenne muscular dystrophy. gene therapy. genetics & genomics. Muscular Dystrophy. nutshell. pharma & biotech. side effects. ... Trial of Gene Therapy for Duchenne Muscular Dystrophy Put on Hold. The US Food and Drug Administration halts a study by Solid ... A clinical trial of a gene therapy for Duchenne muscular dystrophy has been halted after a patient suffered serious side ...
walking road to survival armory spreadsheet animal models of duchenne muscular dystrophy from basic cover source dead simply ... Walking Road To Survival Armory Spreadsheet Animal Models Of Duchenne Muscular Dystrophy From Basic Cover Source. Home〉 ... Walking road to survival armory spreadsheet animal models of duchenne muscular dystrophy from basic cover source. View ...
AutosomalCongenitalForms of muscularLimb-girdle muMiceChildren with Duchenne muscularType of muscular dystrophyParent Project Muscular DystrophySkeletalPeople with Duchenne muscularMutationsDuchenne Muscular DystrophyGene therapy of Duchenne dystrophyMutationHUMAN MUSCULAR DYSTROPHYOculopharyngeal muscularSevereAutosomal dominantPathologyProteinsGeneticsCanine muscular dystrophyHeterogeneousPatients with myotonic dystrophyCauses myotonic dystrophyNeuromuscularMusclesDegenerationMyotonic Dystrophy TypeDystrophin geneCommon form of muscularProteinClinicalPathogenesisLack dystrophinSymptomsGolden RetrieverHumansCRISPRModels of muscularDystrophicMyopathiesExonProtocolsLocusResearchersGeneticallyModelRegeneration
- Mutations in the laminin α 2-chain gene ( LAMA2 ) cause merosin-deficient congenital muscular dystrophy," Nature Genetics , vol. 11, no. 2, pp. 216-218, 1995. (hindawi.com)
- L. Wells, "The O -mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy," The Journal of Biological Chemistry , vol. 288, no. 10, pp. 6930-6935, 2013. (hindawi.com)
- LARGE can functionally bypass α -dystroglycan glycosylation defects in distinct congenital muscular dystrophies," Nature Medicine , vol. 10, no. 7, pp. 696-703, 2004. (hindawi.com)
- We furthermore assessed Evans blue incorporation in skeletal muscle of the dystrophia muscularis ( dy / dy ) mouse and its milder allelic variant, the dy 2J / dy 2J mouse, animal models for congenital muscular dystrophy. (rupress.org)
- Taken together, these results suggest that the pathogenic mechanisms in congenital muscular dystrophy are different from those in Duchenne muscular dystrophy, although the primary defects originate in two components associated with the same protein complex. (rupress.org)
- A model for Congenital muscular dystrophy type 1D is the myodystrophy Large myd mouse, which harbors a mutation in the Large1 gene. (nature.com)
- A new study conducted on small- and large-animal models and published in the journal Science Translational Medicine suggests that gene therapy can be used in improving muscle strength among patients of a fatal congenital pediatric disease known as X-linked myotubular myopathy. (medindia.net)
- Congenital muscular dystrophy (CMD) is a family of muscle disorders which present clinically as lack of muscle tone at birth, joint stiffness and contractures, markedly delayed motor development, slowly progressive weakness, and muscle atrophy. (kzoo.edu)
- Preclinical studies show that gene therapy can improve muscle strength in small- and large-animal models of a fatal congenital pediatric disease known as X-linked myotubular myopathy. (medicalxpress.com)
- Ullrich syndrome is a recessive congenital muscular dystrophy affecting connective tissue and muscle. (pnas.org)
- Congenital muscular dystrophy (CMD) identifies a heterogeneous group of disorders characterized by muscle weakness and hypotonia at birth, with a muscle pathology reminiscent of muscular dystrophy. (pnas.org)
- The mice in the study have a rare and severe form of congenital muscular dystrophy known as MDC1A. (thestar.com)
- Researchers from the University of Pittsburgh report the first study to achieve success with gene therapy for the treatment of congenital muscular dystrophy (CMD) in mice, demonstrating that the formidable scientific challenges that have cast doubt on gene therapy ever being feasible for children with muscular dystrophy can be overcome. (innovations-report.com)
- While we have much farther to go until we can say gene therapy will work in children, we have shown here a glimmer of hope by presenting the first evidence of a successful gene therapy approach that improved both the general health and longevity in mice with congenital muscular dystrophy," said Dr. Xiao. (innovations-report.com)
- Responses to this program announcement may include studies in appropriate animal models or preclinical or clinical studies in patients with facioscapulohumeral dystrophy (FSH), limb-girdle muscular dystrophy (LGMD), myotonic dystrophy, congenital muscular dystrophy (CMD), Emery-Dreifuss muscular dystrophy (EMD), Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or other forms of muscular dystrophy. (nih.gov)
- Genetic defects in a number of components of the dystrophin-glycoprotein complex (DGC) lead to distinct forms of muscular dystrophy. (rupress.org)
- Defects in components of the dystrophin-glycoprotein complex (DGC) are responsible for different forms of muscular dystrophies. (nature.com)
- With the molecular mechanisms underlying the various forms of muscular dystrophy now rapidly clarifying, precise diagnosis has become a reality, and even a requirement in clinical practice. (springer.com)
- Mutations in members of the dystrophin-glycoprotein complex (DGC) account for several forms of muscular dystrophy and cardiomyopathy ( Heydemann and McNally, 2007 ). (frontiersin.org)
- Mutations in many protein components of DGC (such as dystrophin, sarcoglycans or dystroglycans) lead to various forms of muscular dystrophy and murine models with various dystrophic phenotypes, partly because certain components of DGC are more crucial in function than others [ 7 ]. (iospress.com)
- In both cats and dogs, the most common forms of muscular dystrophy begin at birth or shortly thereafter. (petcarerx.com)
- Most forms of muscular dystrophy in both cats and dogs appear very young. (petcarerx.com)
- Precise incidence and prevalence figures are difficult to determine, and most individual forms of muscular dystrophy are rare. (nih.gov)
- Although genes responsible for many forms of muscular dystrophy have been identified, much more research is needed to discover the pathogenic mechanisms involved and develop effective treatments. (nih.gov)
- β -Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12," Nature Genetics , vol. 11, no. 3, pp. 257-265, 1995. (hindawi.com)
- A dystroglycan mutation associated with limb-girdle muscular dystrophy," The New England Journal of Medicine , vol. 364, no. 10, pp. 939-946, 2011. (hindawi.com)
- A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes. (biomedsearch.com)
- Several mutations in the muscle-specific caveolin, caveolin-3, lead to a form of autosomal dominant muscular dystrophy referred to as limb girdle muscular dystrophy type 1C (LGMD-1C). (biomedsearch.com)
- Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. (semanticscholar.org)
- To determine whether this same early myocardial dysfunction is present in other muscular dystrophy cardiomyopathies, we conducted a physiological assessment of cardiac function at the tissue level in the δ-sarcoglycan null mouse model ( Sgcd −/− ) of Limb-girdle muscular dystrophy type 2F. (frontiersin.org)
- These studies suggest that screening Limb-girdle muscular dystrophy patients using methods that detect earlier functional changes may provide a longer therapeutic window for cardiac care. (frontiersin.org)
- Duchenne muscular dystrophy (DMD) is caused by mutations in the gene encoding dystrophin and four autosomal recessive subtypes of limb-girdle muscular dystrophy (LGMD) are caused by mutations in the sarcoglycans. (frontiersin.org)
- Although dysferlin is expressed in human skeletal and cardiac muscles ( 1 ), mutations in the encoding gene ( DYSF ) lead only to skeletal muscle phenotypes without myocardial involvement, namely limb girdle muscular dystrophy 2B (LGMD2B) 4 and Miyoshi myopathy ( 4 ). (jimmunol.org)
- Mice Holding Back Muscular Dystrophy Research? (all-creatures.org)
- Humans and mice have previously unknown and potentially critical differences in one of the genes responsible for Duchenne muscular dystrophy (DMD). (all-creatures.org)
- Researchers writing in the open access journal BMC Biology have found that two major features of a key DMD gene are present in most mammals, including humans, but are specifically absent in mice and rats, calling into question the use of the mouse as the principal model animal for studying DMD. (all-creatures.org)
- Roberts said, 'Two previously unrecognized features (a gene switch or promoter and a novel binding site for the adaptor protein syntrophin) are encoded by the α-dystrobrevin gene of almost all four-legged animals except mice. (all-creatures.org)
- The mice show a whole body effect, with a dramatic improvement of their dystrophy. (eurekalert.org)
- The results involved mice, so researchers do not know if the method will work in larger animals or people. (eurekalert.org)
- In contrast, mdx mice, a dystrophin-deficient animal model for Duchenne muscular dystrophy, showed significant Evans blue accumulation in skeletal muscle fibers. (rupress.org)
- Modified stem cells have been used to treat Duchenne muscular dystrophy (DMD) in mice by replacing the faulty gene that causes the disease with a normal version of the gene. (understandinganimalresearch.org.uk)
- The first transgenic livestock were produced in 1985 and the first animal to synthesise transgenic proteins in their milk were mice, engineered to produce human tissue plasminogen activator in 1987. (wikipedia.org)
- Researchers at Johns Hopkins have shown that a drug commonly used to lower blood pressure reverses muscle wasting in genetically engineered mice with Marfan syndrome and also prevents muscle degeneration in mice with Duchenne muscular dystrophy. (hopkinsmedicine.org)
- The researchers used two animal models: mice with an engineered MTM1 mutation and dogs carrying a naturally occurring MTM1 gene mutation. (medicalxpress.com)
- Despite showing less intense myofibrosis and scarce deposition of fatty tissue, mdx mice are considered an adequate animal model for studies on the pathogenesis of Duchenne-type muscular dystrophy. (scielo.br)
- Therefore mdx mice should be regarded as an important tool for studies on pathogenetic mechanisms of Duchenne-type muscular dystrophy. (scielo.br)
- 7. Dupont-Versteegden EE, McCarter RJ, Katz MS. Voluntary exercise decreases progression of muscular dystrophy in diaphragm of mdx mice J Appl Physiol 1994;77:1736-1741. (scielo.br)
- CureDuchenne , a patient charity based in Newport Beach, California, says it will spend $5 million to finance a new startup company, Exonics Therapeutics , based on research in which scientists cured mice of muscular dystrophy by altering the DNA letters inside their cells. (technologyreview.com)
- Exonics will advance research underway at the University of Texas Southwestern Medical Center, where scientist Eric Olson and colleagues have cured mice of muscular dystrophy using CRISPR, stirring intense hopes among patients. (technologyreview.com)
- This finding was confirmed on mRNA and protein levels in two additional dysferlin-deficient mouse strains, A/J mice and Dysf −/− mice, as well as in patients with dysferlin-deficient muscular dystrophy. (jimmunol.org)
- All these mice develop progressive muscular dystrophy after 2 mo of age. (jimmunol.org)
- Both strains of mice show symptoms similar to myotonic dystrophy. (redorbit.com)
- Sick Kids scientists wielding a "breakthrough" gene editing technology have snipped out a genetic defect in mice that causes a severe form of muscular dystrophy, eliminating all signs of paralysis in the animals. (thestar.com)
- The research, published online Monday in the journal Nature Medicine , is not the first time a lab has used CRISPR to repair genetic errors in mice with muscular dystrophy. (thestar.com)
- Amy Wagers, a professor of stem cell and regenerative biology at Harvard University who has used CRISPR to correct different muscular dystrophy mutations in mice, said that Cohn's results are "quite exciting and compelling. (thestar.com)
- These same cells, injected into mice with a mild form of muscular dystrophy, formed healthy, functional muscle fibers at the site of deteriorating tissue. (technologyreview.com)
- Gait patterns comparison of children with Duchenne muscular dystrophy to those of control subjects considering the effect of gait velocity. (semanticscholar.org)
- Children with Duchenne muscular dystrophy often begin to lose muscle strength and function between ages three and five. (eurekalert.org)
- The article, "Quantitative coordination evaluation for screening children with Duchenne muscular dystrophy," is authored by Jian An, Zhiying Xie, Fan Jia, Zhaoxia Wang, Yun Yuan, Jue Zhang and Jing Fang. (brightsurf.com)
- The work not only opens up potential therapies for this type of muscular dystrophy, but also paves the way for RNA-targeted therapeutics in general. (scripps.edu)
- WASHINGTON, February 11, 2020 -- Duchenne muscular dystrophy is the most common type of muscular dystrophy, affecting more than 10,000 males at birth per year in the United States with severe physical disability, chronic wasting and muscle deterioration. (brightsurf.com)
- The total impact, however, is high, as tens of thousands of people are affected with some type of muscular dystrophy in the United States alone. (nih.gov)
- A good genetic and biochemical model for Duchenne muscular dystrophy is the Dmd mdx mouse that bears a nonsense point mutation in exon 23 of the Dmd gene, which causes lack of this protein in skeletal muscle. (nature.com)
- MDA awarded $352,188 to Zolt Arany, assistant professor in medicine at Beth Israel Deaconess Medical Center, part of Harvard Medical School in Boston, for research into the role of skeletal muscle metabolism in Duchenne muscular dystrophy (DMD) . (mda.org)
- Professor of Molecular Medicine, Darek Gorecki , and his team in the School of Pharmacy and Biomedical Sciences , are working to find a treatment that will delay the onset and slow down the progression of muscle degeneration in people with Duchenne muscular dystrophy, the most common and severe of all muscular dystrophies. (port.ac.uk)
- SGT-001 has been administered to six people so far, and involves the transfer of an engineered version of the dystrophin gene DMD , which is dysfunctional in people with Duchenne muscular dystrophy, using an adeno-associated virus (AAV) as a vector. (the-scientist.com)
- β -sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex," Nature Genetics , vol. 11, no. 3, pp. 266-273, 1995. (hindawi.com)
- Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy," Science , vol. 270, no. 5237, pp. 819-822, 1995. (hindawi.com)
- Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy," Cell , vol. 78, no. 4, pp. 625-633, 1994. (hindawi.com)
- Facioscapulohumeral muscular dystrophy (FSHD) is a genetically dominant myopathy caused by mutations that disrupt repression of the normally silent DUX4 gene, which encodes a transcription factor that has been shown to interfere with myogenesis when misexpressed at very low levels in myoblasts and to cause cell death when overexpressed at high levels. (biologists.org)
- Patients with such mutations develop the less severe Becker muscular dystrophy. (springer.com)
- Duchenne muscular dystrophy is an inherited neuromuscular disorder primarily occurring in boys and caused by mutations in the dystrophin gene. (emaxhealth.com)
- Because many different mutations in the dystrophin gene can lead to muscular dystrophy, initially a CRISPR treatment wouldn't fix all of them. (technologyreview.com)
- Duchenne muscular dystrophy (DMD) is a lethal, X chromosome-linked muscle disease caused by mutations in the dystrophin ( DMD ) gene, which result in the loss or altered function of dystrophin protein. (biologists.org)
- More devastating mutations in these same genes can cause severe childhood autosomal muscular dystrophy (SCARMD). (nih.gov)
- Recent evidence from both Duchenne muscular dystrophy patients and animal models suggests that myocardial dysfunction is present before myocardial damage or deficiencies in whole heart function, and that treatment prior to heart failure symptoms may be beneficial. (frontiersin.org)
- Galindo and colleagues studied a small group of Duchenne muscular dystrophy patients and measured blood levels of the protein brain-derived neurotrophic factor (BDNF) and its receptor tropomyosin kinase B (TrKB). (eurekalert.org)
- The dog is affected by Muscular Dystrophy and will always pass a copy of the mutation to its offspring. (horsetesting.com)
- Dog tested negative for the Muscular Dystrophy mutation and will not pass on the defective gene to its offspring. (horsetesting.com)
- The size of this contiguous region is such that the X-linked muscular dystrophy (mdx) mouse mutation probably maps within this segment. (biomedsearch.com)
- It is, however, compatible with the idea that this mutation may correspond in man to Emery Dreifuss muscular dystrophy. (biomedsearch.com)
- VYONDYS 53 is an antisense oligonucleotide from Sarepta's phosphorodiamidate morpholino oligomer (PMO) platform, indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation amenable to exon 53 skipping. (einpresswire.com)
- Myotonic dystrophy type 1, called DM1 for short, is caused by a mutation to one gene. (innovations-report.com)
- In myotonic dystrophy, a mutation causes RNA to bind to an important protein in the cell nucleus. (healthcanal.com)
- Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disease that presents in the fifth or sixth decade with dysphagia, ptosis and proximal limb weakness. (nih.gov)
- Stepanov, V. 2016-04-13 00:00:00 Oculopharyngeal muscular dystrophy (OPMD) is a hereditary neuromuscular disease with autosomal dominant and rarely with autosomal recessive inheritance types. (deepdyve.com)
- Merosin deficient CMD is a more severe, newly discovered autosomal recessive form of muscular dystrophy, whose patients have all CMD hallmark symptoms, but additionally are unable to walk independently. (kzoo.edu)
- Duchenne muscular dystrophy (DMD) is a lethal, X-linked disease that causes severe loss of muscle mass and function in young children. (biologists.org)
- The study, " Non-immunogenic utrophin gene therapy for the treatment of muscular dystrophy animal models " published in Nature Medicine , found that a gene therapy successfully stopped the severe muscle deterioration associated with the disease-without triggering immune responses known to hinder previous therapeutic approaches. (genengnews.com)
- CMD is a group of some 20 inherited muscular dystrophies characterized by progressive and severe muscle wasting and weakness first noticed soon after birth. (innovations-report.com)
- RESEARCH OBJECTIVES Background The muscular dystrophies are a heterogeneous group of inherited neuromuscular diseases characterized by weakness and wasting of muscles. (nih.gov)
- The limb-girdle muscular dystrophies (LGMD) are genetically heterogeneous, with both dominant and recessive forms reported. (nih.gov)
- By querying the database against the secondary structure of the triplet repeat that causes myotonic dystrophy type 1, a lead compound targeting this RNA was quickly identified. (scripps.edu)
- The first author of the ACS Chemical Biology study, "Rationally Designed Small Molecules Targeting the RNA That Causes Myotonic Dystrophy Type 1 Are Potently Bioactive" ( http://pubs.acs.org/doi/abs/10.1021/cb200408a ) is Jessica L. Childs-Disney of Scripps Research. (scripps.edu)
- Identified in nature or generated in laboratory, animal models are an important tool to study neuromuscular disorders. (nature.com)
- Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder, which is caused by dystrophin deficiency in muscle fibers. (springer.com)
- The main benefit of this research is to cure human disease and improve function in humans and animals afflicted with neuromuscular disorders. (change.org)
- Duchenne muscular dystrophy (DMD) is a hereditary and lethal neuromuscular disease characterized by progressive loss of muscle strength and integrity. (nationwidechildrens.org)
- Researchers have found a delivery method for gene therapy that reaches all the voluntary muscles of a mouse - including heart, diaphragm and limbs - and reverses the process of muscle-wasting found in muscular dystrophy. (eurekalert.org)
- We have a clear 'proof of principle' that it is possible to deliver new genes body-wide to all the striated muscles of an adult animal. (eurekalert.org)
- Our new work identifies for the first time a method where a new dystrophin gene can be delivered, using a safe and simple method, to all of the affected muscles of a mouse with muscular dystrophy," said Dr. Jeffrey S. Chamberlain, professor of neurology and director of the Muscular Dystrophy Cooperative Research Center at the University of Washington School of Medicine in Seattle. (eurekalert.org)
- The meat you eat, if you're a carnivore, comes from animal muscles. (singularityhub.com)
- If the cardiac muscles are impaired the animal may exhibit signs of respiratory distress. (wikipedia.org)
- In calves, muscles in upper portion of the front legs and the hind legs are degraded, causing the animal to have a stiff gait and it may have difficulty standing. (wikipedia.org)
- With their modified gene therapy approach, a multidisciplinary team from the Perelman School of Medicine at the University of Pennsylvania engineered adeno-associated virus (AAV) vectors to deliver a "substitute" protein for dystrophin in small and large animal DMD models to keep the muscles intact. (eurekalert.org)
- Myotonic dystrophy involves difficulty relaxing muscles (myotonia) and, as in other muscular dystrophies, progressive muscle weakness and wasting. (redorbit.com)
- The degree of attack of the muscles seems to show a positive correlation with animal age. (vin.com)
- An immune reaction to dystrophin, the muscle protein that is defective in patients with Duchenne muscular dystrophy, may pose a new challenge to strengthening muscles of patients with this disease, suggests a new study appearing in the October 7, 2010, issue of The New England Journal of Medicine . (nationwidechildrens.org)
- DMD genes packaged into viral vectors strengthen muscles in mouse models of muscular dystrophy," said Jerry R. Mendell, MD , director, Center for Gene Therapy at The Research Institute at Nationwide Children's Hospital and one of the study authors. (nationwidechildrens.org)
- White lesions in the pectoral muscles associated with muscular dystrophy. (cornell.edu)
- In muscular dystrophies, however, a failure of the regenerative process results in muscle degeneration and weakness. (nature.com)
- Muscular dystrophies are hereditary myopathies characterized by weakness and progressive muscular degeneration and consequently substitution for conjunctive and adipose tissue that can be appraised morphologically. (vin.com)
- Muscular dystrophy refers to any of a group of disorders in which low levels of the protein dystrophin causes progressive muscle degeneration. (petcarerx.com)
- In two related studies published recently in online-before-print editions of Journal of the American Chemical Society and ACS Chemical Biology , the scientists show that these novel compounds significantly improve a number of biological defects associated with myotonic dystrophy type 1 in both cell culture and animal models. (scripps.edu)
- The first authors of the JACS study, "Design of a Bioactive Small Molecule that Targets the Myotonic Dystrophy Type 1 RNA via an RNA Motif-Ligand Database & Chemical Similarity Searching" ( http://pubs.acs.org/doi/abs/10.1021/ja210088v ), are Raman Parkesh and Jessica Childs-Disney of Scripps Research. (scripps.edu)
- Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults, affecting one in 8,000 people in North America. (innovations-report.com)
- The most common type of myotonic dystrophy (type 1) is caused by changes in a gene that has a repeating sequence of three DNA building blocks. (redorbit.com)
- A proof version of the paper, "A Novel CUGexp·MBNL1 Inhibitor With Therapeutic Potential for Myotonic Dystrophy Type 1," is available online . (healthcanal.com)
- Absence of this protein causes a debilitating and incurable Duchenne muscular dystrophy. (port.ac.uk)
- In Muscular Dystrophy: Methods and Protocols, Katherine Bushby and Louise Anderson have assembled an outstanding collection of key techniques for the analysis of DNA and protein from patients suspected to suffer from muscular dystrophy. (springer.com)
- For the first time, we've shown how a carefully constructed version of a dystrophin-related protein can safely prevent the breakdown of muscle and maintain its function over time in the most informative animal models. (eurekalert.org)
- In animal models, one of these compounds improved protein-splicing defects by more than 40 percent. (scripps.edu)
- SAN ANTONIO, TEXAS, Aug. 1, 2018 -- A protein known to drive nerve cell survival in the brain and spinal cord might also protect failing hearts in children and young adults with Duchenne muscular dystrophy, according to preliminary research presented at the American Heart Association's Basic Cardiovascular Sciences Scientific Sessions, a premier global exchange of the latest advances in basic cardiovascular science. (eurekalert.org)
- By uncovering a somewhat surprising T cell immune response to dystrophin, they're helping investigators refine several distinct and promising approaches to treating Duchenne muscular dystrophy (DMD) by correcting or adding the dystrophin protein that is defective in the disease. (nationwidechildrens.org)
- These results demonstrate the efficacy of gene replacement therapy for myotubular myopathy in animal models and pave the way to a clinical trial in patients. (medindia.net)
- Both large and small animal species deficient for dystrophin have been described SB-505124 and have been extremely useful for pre-clinical studies of DMD. (livingseas.org)
- Professor Gorecki says: "If we can achieve improvement in the mouse model of Duchenne muscular dystrophy, then there is a good chance that the same treatment may work in human patients, though of course, it will still need to be tested in clinical trials. (port.ac.uk)
- A clinical trial of a gene therapy for Duchenne muscular dystrophy has been halted after a patient suffered serious side effects following treatment, Reuters reports today (November 12). (the-scientist.com)
- The implications of the pre-clinical findings are extraordinary for inherited muscular diseases," said Childers, co-senior author on the paper, and co-principal investigator of the study. (medicalxpress.com)
- Endpoint measures in the mdx mouse relevant for muscular dystrophy pre-clinical studies. (semanticscholar.org)
- We summarise data linked to myonecrosis in muscle, blood and urine of dystrophic animal species, and discuss the challenge of translating such biomarkers to the clinic for DMD patients, especially to enhance the success of clinical trials. (biologists.org)
- And if it works in animals, then we move hopefully into clinical trials with humans," Zimmerman said. (innovations-report.com)
- Dystrophic animals presented clinical signs such as weakness and muscular atrophy and serum creatine quinase (CK) high levels. (vin.com)
- Use of the six-minute walk test to characterize golden retriever muscular dystrophy. (semanticscholar.org)
- Animal activists have repeatedly used a video of a golden retriever cross named Jelly , shown with food on her face," Texas A&M wrote. (blabbermouth.net)
- Muscular Dystrophy in Golden Retriever Dogs. (vin.com)
- The muscular dystrophy affects Golden retriever more often. (vin.com)
- If the experiments take place and if results are encouraging researchers would continue to test the method in larger animals and hopefully eventually humans. (eurekalert.org)
- Humans have domesticated plants and animals since around 12,000 BCE, using selective breeding or artificial selection (as contrasted with natural selection ). (wikipedia.org)
- A foundation representing boys dying from muscular dystrophy says it will try to cure the disease using CRISPR, a breakthrough method of correcting DNA. (technologyreview.com)
- The company hopes to move as quickly as possible toward a test of CRISPR in boys with Duchenne muscular dystrophy, Knowles says. (technologyreview.com)
- Two, Editas and CRISPR Therapeutics, list muscular dystrophy among the diseases they are interested in, but it's not a top priority. (technologyreview.com)
- To study altered sarcolemmal permeability in dystrophic muscle fibers, we injected animal models for muscular dystrophy with Evans blue dye (EBD). (rupress.org)
- This Review describes the promising biomarkers for dystrophic muscle that have been identified in muscle, mainly using animal models. (biologists.org)
- Roland Roberts led a team of researchers from King's College London, UK, and was funded by the Muscular Dystrophy Campaign. (all-creatures.org)
- Researchers restored muscle function in animals with muscular dystrophy. (the-scientist.com)
- Post approval monitoring (PAM) visits to instructors and researchers are conducted by an ad hoc committee of the ACC either annually and/or during the first year of an animal project. (brocku.ca)
- But success in animal experiments allows researchers to begin exploring that next step. (thestar.com)
- By using a miniature gene, similar in function to the one defective in CMD, and applying a newly developed method for "systemic" gene delivery, the Pitt researchers have shown that gene therapy for muscular dystrophy is both feasible and effective in a mouse model of especially profound disease. (innovations-report.com)
- Animal Model Small Group members included Dongsheng Duan (co-leader), Jill Rafael-Fortney (co-leader), Alison Blain, David Kass, Elizabeth McNally, Joseph Metzger, and Chris Spurney. (parentprojectmd.org)
- Although each animal model has its own limitations they have all been essential for the development of treatment strategies SB-505124 that target dystrophin absence disease progression or muscle regeneration . (livingseas.org)
- Monitoring disease activity noninvasively in the mdx model of Duchenne muscular dystrophy. (nih.gov)
- Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppression. (semanticscholar.org)
- This defect also provides a unique biomedical model for human cardiomyopathy associated with muscular dystrophy that may be superior to those available because of the similarities in anatomy and physiology and allow advances in gene therapies for human disease. (biomedcentral.com)
- Virotherapy withclaudin-5 prevents the onset of cardiomyopathy in another muscular dystrophy model. (frontiersin.org)
- Generation of a new animal model for human LCAT deficiency. (usda.gov)
- The mdx mouse is a popular model for studying Duchenne muscular dystrophy (DMD). (wikipedia.org)
- An animal model of Duchenne muscular dystrophy: morphologic lesions. (vin.com)
- By contrast, Duchenne muscular dystrophy (DMD) is characterized by a loss of muscle fibers and impaired regeneration. (springer.com)
- Modulation of the extracellular matrix (ECM) components in the muscular tissue during all phases (onset, myonecrosis and regeneration) of disease, indicate an important role for the ECM driving inflammatory cells to the foci of lesion. (scielo.br)
- This medication is administered orally and is designed to inhibit a small molecule that is activated in infancy and is central to causing muscle damage and preventing regeneration in Duchenne muscular dystrophy. (emaxhealth.com)