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A publication issued at stated, more or less regular, intervals.
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The premier bibliographic database of the NATIONAL LIBRARY OF MEDICINE. MEDLINE® (MEDLARS Online) is the primary subset of PUBMED and can be searched on NLM's Web site in PubMed or the NLM Gateway. MEDLINE references are indexed with MEDICAL SUBJECT HEADINGS (MeSH).
Publications in any medium issued in successive parts bearing numerical or chronological designations and intended to be continued indefinitely. (ALA Glossary of Library and Information Science, 1983, p203)
All of the divisions of the natural sciences dealing with the various aspects of the phenomena of life and vital processes. The concept includes anatomy and physiology, biochemistry and biophysics, and the biology of animals, plants, and microorganisms. It should be differentiated from BIOLOGY, one of its subdivisions, concerned specifically with the origin and life processes of living organisms.
The scattering of x-rays by matter, especially crystals, with accompanying variation in intensity due to interference effects. Analysis of the crystal structure of materials is performed by passing x-rays through them and registering the diffraction image of the rays (CRYSTALLOGRAPHY, X-RAY). (From McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
Decisions, usually developed by government policymakers, for determining present and future objectives pertaining to the health care system.
A rare but highly lethal childhood tumor found almost exclusively in infants. Histopathologically, it resembles RHABDOMYOSARCOMA but the tumor cells are not of myogenic origin. Although it arises primarily in the kidney, it may be found in other parts of the body. The rhabdoid cytomorphology is believed to be the expression of a very primitive malignant cell. (From Holland et al., Cancer Medicine, 3d ed, p2210)
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
The study of natural phenomena by observation, measurement, and experimentation.
The decision process by which individuals, groups or institutions establish policies pertaining to plans, programs or procedures.
A course or method of action selected, usually by an organization, institution, university, society, etc., from among alternatives to guide and determine present and future decisions and positions on matters of public interest or social concern. It does not include internal policy relating to organization and administration within the corporate body, for which ORGANIZATION AND ADMINISTRATION is available.
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Facilities that collect, store, and distribute tissues, e.g., cell lines, microorganisms, blood, sperm, milk, breast tissue, for use by others. Other uses may include transplantation and comparison of diseased tissues in the identification of cancer.
A group of muscle diseases associated with abnormal mitochondria function.
Centers for acquiring, characterizing, and storing organs or tissue for future use.
A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
Processes that incorporate some element of randomness, used particularly to refer to a time series of random variables.
A class in the phylum MOLLUSCA comprised of mussels; clams; OYSTERS; COCKLES; and SCALLOPS. They are characterized by a bilaterally symmetrical hinged shell and a muscular foot used for burrowing and anchoring.
A family of marine MUSSELS in the class BIVALVIA.
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.
A surgical specialty concerned with the study, diagnosis, and treatment of diseases of the urinary tract in both sexes, and the genital tract in the male. Common urological problems include urinary obstruction, URINARY INCONTINENCE, infections, and UROGENITAL NEOPLASMS.
A subspecialty of internal medicine concerned with the anatomy, physiology, and pathology of the kidney.
Hospital department responsible for the administration and provision of diagnostic and therapeutic services for the urologic patient.
Surgery performed on the urinary tract or its parts in the male or female. For surgery of the male genitalia, UROLOGIC SURGICAL PROCEDURES, MALE is available.
Special hospitals which provide care for ill children.
MELAS syndrome Examples include MELAS syndrome and MERRF syndrome. These conditions can sometimes present together. KSS is ... March 2005). "Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF". Arch. Neurol. 62 (3 ... February 2004). "Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype". Arch. Neurol. 61 (2): ...
The combination of MERRF and MELAS is called the MERRF/MELAS overlap syndrome. It has not been determined how mutations alter ... also known as MERRF syndrome. In addition to symptoms of MELAS syndrome, additional signs and symptoms may include muscle ... The features of MERRF vary widely among affected individuals, even among members of the same family. Common symptoms include, ... A family of mutations 8344A>G and 16182A>C in the MT-TK gene has been found with MERRF syndrome. Another family with the ...
Another example is MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers). In MELAS, heteroplasmy explains the variation ...
Those with MT-ND5 mutations can display the major features of MELAS and MERRF in some patients, as well as symptoms of Leigh's ... "Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF". Archives of Neurology. 62 (3): ... A small percentage of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) are caused by a G>A ... MELAS) as well as some symptoms of Leigh's syndrome and Leber's hereditary optic neuropathy (LHON). MT-ND5 is located in ...
Mutations in mitochondrial tRNAs can be responsible for severe diseases like the MELAS and MERRF syndromes. Mutations in ...
The combination of MERRF and MELAS is called the MERRF/MELAS overlap syndrome, which is caused by mutations in the MT-TH gene. ... and others consistent with the MERRF/MELAS overlap syndrome. The patient exhibited symptoms of MELAS first, then progressed ... A specific mutation of 12147G>A in the MT-TH gene has been found to result in the MERRF/MELAS overlap syndrome. A patient with ... also known as MERRF syndrome. In addition to symptoms of MELAS syndrome, additional signs and symptoms may include muscle ...
MERRF), Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Juvenile myopathy, encephalopathy, ... The features of MERRF vary widely among affected individuals, even among members of the same family. Common symptoms include: ... Mutations in the MT-TF gene have been associated with myoclonic epilepsy with ragged-red fibers (MERRF). Myoclonic epilepsy ... Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the ...
MERRF) Progressive myoclonic epilepsy Clumps of diseased mitochondria accumulate in muscle fibers and appear as "ragged-red ... MELAS) Varying degrees of cognitive impairment and dementia Lactic acidosis Strokes Transient ischemic attacks Hearing loss ...
MELAS syndrome MeSH C05.651.460.620.530 - MERRF syndrome MeSH C05.651.460.700 - ophthalmoplegia, chronic progressive external ...
Includes Mitochondrial Encephalitis Lactic Acidosis Seizures (MELAS), myoclonic epilepsy and ragged red fibers (MERRF), ... MELAS, and Leigh syndrome. Treatment is dependent upon diagnosis and the stage at which the diagnosis is secured. For toxic and ... MELAS, multiple sclerosis). It is estimated that these inherited optic neuropathies in the aggregate affect 1 in 10,000 Of the ...
... gastrointestinal pseudo-obstruction neuropathy MERRF syndrome progressive myoclonic epilepsy "Ragged Red Fibers" are clumps of ... muscle is stained with modified Gömöri trichrome stain short stature hearing loss lactic acidosis exercise intolerance MELAS ...
... syndrome MELAS syndrome Melkersson-Rosenthal syndrome Melnick-Needles syndrome Memory distrust syndrome Mendelson's syndrome ... Menkes disease MERRF syndrome Metabolic syndrome Michelin tire baby syndrome Michels Caskey syndrome Michels syndrome Mickleson ...
... whereas other diseases such as MELAS syndrome, Leber's hereditary optic neuropathy, MERRF syndrome, and others are due to point ... Diseases caused by mutation in the mtDNA include Kearns-Sayre syndrome, MELAS syndrome and Leber's hereditary optic neuropathy ...
... melas syndrome MeSH C10.228.140.163.100.540 - menkes kinky hair syndrome MeSH C10.228.140.163.100.545 - merrf syndrome MeSH ... melas syndrome MeSH C10.668.491.500.500.550 - merrf syndrome MeSH C10.668.491.500.700 - ophthalmoplegia, chronic progressive ... merrf syndrome MeSH C10.228.140.490.250.650.900 - unverricht-lundborg syndrome MeSH C10.228.140.490.360 - epilepsies, partial ...
MELAS syndrome MeSH C18.452.100.100.540 - Menkes kinky hair syndrome MeSH C18.452.100.100.545 - MERRF syndrome MeSH C18.452. ... MELAS syndrome MeSH C18.452.648.151.450 - menkes kinky hair syndrome MeSH C18.452.648.151.505 - MERRF syndrome MeSH C18.452. ... MELAS syndrome MeSH C18.452.660.560.620.530 - MERRF syndrome MeSH C18.452.660.560.700 - ophthalmoplegia, chronic progressive ...
MELAS syndrome MeSH C16.320.565.150.540 - Menkes kinky hair syndrome MeSH C16.320.565.150.545 - MERRF syndrome MeSH C16.320. ...
MERRF syndrome) Neuropathy, ataxia, and retinitis pigmentosa (NARP syndrome) 277.88 Tumor lysis syndrome 277.89 Other specified ... MELAS syndrome) Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) Myoclonus with epilepsy and with ragged red ...
Myoclonus epilepsy associated with ragged red fibers (MERRF) may be confused with MELAS as they both involve seizures, mental ... Children with MELAS are also frequently found to have short stature. Most people with MELAS have a buildup of lactic acid in ... "Coma arrefléxico en el síndrome de MELAS" [Arreflexic coma and MELAS syndrome]. Revista Clínica Española (in Spanish). 209 (7 ... MELAS is mostly caused by mutations in the genes in mitochondrial DNA, but it can also be caused by mutations in the nuclear ...
1993). "A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene". Eur. J. ... September 1995). "A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap ... MERRF+Syndrome at the US National Library of Medicine Medical Subject Headings (MeSH) merrf at NIH/UW GeneTests. ... The causes of MERRF syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the ...
It is associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). MELAS is a rare ... mutation in a patient with features of MERRF and Kearns-Sayre syndrome". Neuromuscular Disorders. 13 (4): 334-40. doi:10.1016/ ... Symptoms of MELAS include recurrent severe headaches, muscle weakness (myopathy), hearing loss, stroke-like episodes with a ... Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW (May 2005). "LHON/MELAS overlap ...
The onset of this disease can begin even before birth but is more commonly in childhood or later into adult life. The progression is slow, with symptoms of weakness and walking difficulties sometimes not presenting until middle age. Early symptoms include Gower's sign ("climbing" up the thighs with the hands when rising from the floor) and tiptoe-walking caused by the beginning of contractures. Bethlem myopathy affects about 1 in 200,000 people.[4] Contractures of the fingers are a typical symptom of Bethlem myopathy but not of the related Ullrich's myopathy (which does include contractures of arms and legs, as does Bethlem myopathy). Serum creatine kinase is elevated in Bethlem myopathy, as there is ongoing muscle cell death. Patients with Bethlem myopathy may expect a normal life span and continued mobility into adulthood. There is currently no cure for this disorder, but the contractures of the legs can be alleviated with heel-cord surgery followed by bracing and regular physical therapy. ...
Succinic acid has been studied, and shown effective for both Leigh syndrome, and MELAS syndrome.[13][14] A high-fat, low- ... "Successful Treatment with Succinate in a Patient with MELAS". Internal Medicine. 43 (5): 427-31. doi:10.2169/internalmedicine. ...
There is a variety of research under way targeted at various forms of limb-girdle muscular dystrophy. Among the methods thought to hold promise for treatment include gene transfer therapy,[13] which works by inserting in cells of defective genes with a healthy gene.[14] According to a review by Bengtsson et al. some success with AAV-mediated gene therapies (for different disorders) have increased interest in researchers, with CRISPR/Cas9 and exon-skipping helping these therapeutic goals along. Limb-girdle muscular dystrophies have many different types which are due to different gene mutations. LGMD2D is caused by a mutation in the α-sarcoglycan gene. Future treatment could be had by gene therapy through recombinant adeno-associated vectors.[15] Conversely, according to a review by Straub, et al. there are several research issues that need to be targeted, the rareness of the disease, our poor understanding of the mechanism of LGMD2, and absence of patient cohorts, consequently biomarkers for ...
The muscle weakness and increased risk of irregular heart beat in TPP result from markedly reduced levels of potassium in the bloodstream. Potassium is not in fact lost from the body, but increased Na+/K+-ATPase activity (the enzyme that moves potassium into cells and keeps sodium in the blood) leads to shift of potassium into tissues, and depletes the circulation. In other types of potassium derangement, the acid-base balance is usually disturbed, with metabolic alkalosis and metabolic acidosis often being present. In TPP, these disturbances are generally absent. Hypokalemia leads to hyperpolarization of muscle cells, making the neuromuscular junction less responsive to normal nerve impulses and leading to decreased contractility of the muscles.[1] It is not clear how the described genetic defects increase the Na+/K+-ATPase activity, but it is suspected that the enzyme becomes more active due to increased thyroid hormone levels. Hyperthyroidism increases the levels of catecholamines (such as ...
ICD-10 is an international statistical classification used in health care and related industries. Produced by the World Health Organization, it is used in several countries around the world. Some have gone on to develop their own national enhancements, building off the international version of the classification. Chapter VI of ICD-10 deals with diseases and disorders of the nervous system. It covers conditions such as meningitis, Parkinson's disease, epilepsy and cerebral palsy. However; neoplastic conditions, such as meningiomas, are captured using codes from Chapter II. ...
Myasthenia gravis is the most common neuromuscular disease affecting function of the end plate in patients. It is present in 100 people out of 1,000,000 in the population, and its onset is usually in either younger or older individuals.(reference 14) Acquired myasthenia gravis is the most common neuromuscular junction disease.(reference 7) Important observations were made by Patrick and Lindstrom in 1973 when they found that antibodies attacking the acetylcholine receptors were present in around 85% of cases of myasthenia gravis.(reference renamed form 13)(reference 36) The remaining diseases were also a result of antibody attacks on vital proteins, but instead of the acetylcholine receptor, the culprits were MuSK, a muscle-specific serum kinase, and lipoprotein receptor-related protein.(reference 36) So these mechanisms describe myasthenia gravis that is acquired, and not congenital, affecting these vital proteins by an immunological response against self-antigens. The cases not caused by ...
எம்.ஜீயில் தன்பிறப்பொருளெதிரிகள் பெரும்பாலாக நிகோடினிக் அசிடைல்கொலின் ஏற்பிகளுக்கு( என்.ஏ.சி.எச்.ஆர் (nAChR)) எதிராக இயக்கப்படுகின்றன.[5] என்.ஏ.சி.எச்.ஆர் தசை இறுக்கத்தைத் தூண்டும் நரம்பியத்தாண்டுவிப்பியாக அசிடைல்கொலினுக்கான இயக்க முனைத்தட்டுக்கான ஏற்பியாகும். பிறப்பொருளெதிரியின் சில வடிவங்கள் அசிடைல்கொலின் ஏற்பிகளுடன் பிணைவதை பாழாக்குகின்றன. மற்றவை ஏற்பிகள் அழியக் ...
MERRF syndrome) Myoclonic progressive familial epilepsy Myoclonus ataxia Myoclonus cerebellar ataxia deafness Myoclonus ... malignant Melanoma-astrocytoma syndrome Melanosis neurocutaneous MELAS Meleda disease Melhem-Fahl syndrome Melioidosis ...
L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome. *MELAS Syndrome ... Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS). *MELAS Syndrome ... MELAS. May 2009. July 2012. July 2012. April 24, 2009. October 26, 2016. August 10, 2016. *Columbia University Medical Center. ... MERRF Syndrome OR Mitochondrial Myopathies OR myoclonic epilepsy with ragged-red fibers (36 records) ...
and stroke-like episodes (MELAS). Myoclonic epilepsy with ragged-red fibers (MERRF) ...
Mutations that cause MERRF/MELAS overlap syndrome each change single nucleotides in the MT-TL1 gene. Researchers have not ... Liu K, Zhao H, Ji K, Yan C. MERRF/MELAS overlap syndrome due to the m.3291T,C mutation. Metab Brain Dis. 2014 Mar;29(1):139-44 ... Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain. 1997 Oct;120 ( ... Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases. Exp Mol Med. 2010 Jun 30;42(6):446-55 ...
Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases ... Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases ... with MELAS or MERRF. In particular, the mtDNA sequences were completely determined for 49 patients. From the mutational ... MELAS Syndrome/diagnosis , MERRF Syndrome/diagnosis , Male , Middle Aged , Molecular Diagnostic Techniques , Pedigree , ...
MERRF/MELAS overlap syndrome MT-TS2 related (NGS Sequencing: MT-TS2) Test Cost INR 30000.00 Surat Pune Jaipur Lucknow Kanpur ... MERRF/MELAS overlap syndrome MT-TS2 related (NGS Sequencing: MT-TS2) Test Description. MERRF/MELAS overlap syndrome MT-TS2 ... Deatils about the test MERRF/MELAS overlap syndrome MT-TS2 related (NGS Sequencing: MT-TS2). *What is the cost of MERRF/MELAS ... all MERRF/MELAS overlap syndrome MT-TS2 related (NGS Sequencing: MT-TS2) samples are processed twice in order to double-check ...
3. 3. Leber hereditary optic neuropathy,Leigh disease,MELAS, MERRF. B) 1. Y-Linked inheritance. 2. Only male to male ...
MELAS syndrome Examples include MELAS syndrome and MERRF syndrome. These conditions can sometimes present together. KSS is ... March 2005). "Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF". Arch. Neurol. 62 (3 ... February 2004). "Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype". Arch. Neurol. 61 (2): ...
MELAS) ; Pearson syndrome; myoclonus epilepsy with ragged red fibers (MERRF) ; mitochondrial neurogastrointestinal ...
All mitochondrial diseases are known by acronym abbreviations (e.g., MELAS, MERRF, NARP, LHON). ...
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). *Myoclonic epilepsy with ragged red fibers ( ... MERRF). *Neuropathy, ataxia, and retinitis pigmentosa (NARP). *Pearson syndrome. *Wolfram syndrome. Patients seen in our ...
Abbreviations: DEAF, deafness; MELAS, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; LHON, Leber ... hereditary optic neuropathy; ADPD, Alzheimer and Parkinson disease; MERRF, myoclonic epilepsy and ragged red fiber disease; ...
MERRF. Myoclonic epilepsy, myopathy. TRNK: m.8344A , G;. m.8356T , C. NARP. Neuropathy, ataxia, retinitis pigmentosa. ATP6: m. ... MELAS. Myopathy, encephalopathy, lactic acidosis, stroke-like episodes. TRNL1: m.3243A , G;. m.3271T , C. ND1 and ND5: ... Nonetheless, the most common disease types, such as Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis ... These features include (1) maternal inheritance, (2) recognition of established syndromes such as MELAS, (3) recognition of ...
Myoclonic Epilepsy with Ragged Red Fibers (MERRF). Leber Hereditary Optic Neuropathy (LHON). Leigh Syndrome. Neuropathy, ataxia ... Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) Syndrome. ...
Another example is MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers). In MELAS, heteroplasmy explains the variation ...
MELAS syndrome. MELAS affects many areas of the body, including the brain, nervous system, and muscles. ... MERRF syndrome. MERRF affects the nervous system, muscles, and other areas of the body. ...
MERRF. *. MERRF is a mitochondrial disorder due to one of several mutations in the mtDNA, with the A,G8344 mutation seen most ... MELAS : there is some evidence that arginine and/or citrulline may prevent further strokes by action on neuronal NOS ... MELAS may stabilize, or present with recurrent strokes over time with resultant loss of previous motor and cognitive function, ... MELAS is the most common of the mitochondrial disorders with a prevalence as frequent as 1 in 6000 people. ...
MT-TH gene mutations that cause MELAS and MERRF/MELAS overlap syndrome change single DNA building blocks (nucleotides) in the ... these genetic changes alter energy production in mitochondria or cause the varied signs and symptoms of MELAS or MERRF/MELAS ... This combination of signs and symptoms is called MERRF/MELAS overlap syndrome. ... MERRF) and MELAS. The mutation involved in this overlap syndrome replaces the nucleotide guanine with the nucleotide adenine at ...
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain1998; ...
MERRF-MELAS / Encephalopathy G12147A tRNA His - + Cfrm Pathogenic 0 5 12258 MT-TS2 DMDF / RP+SNHL C12258A tRNA Ser (AGY) - + ... Encephalopathy / MELAS G4332A tRNA Gln - + Cfrm Pathogenic 0 4 4450 MT-TM Myopathy / MELAS G4450A tRNA Met - + Cfrm Pathogenic ... MNGIE-like disease / MELAS A1630G tRNA Val - + Cfrm Pathogenic 0 2 1644 MT-TV LS / HCM / MELAS G1644A tRNA Val - + Cfrm ... MELAS / Myopathy T3258C tRNA Leu (UUR) - + Cfrm Pathogenic 1 5 3260 MT-TL1 MMC / MELAS A3260G tRNA Leu (UUR) - + Cfrm ...
MELAS. mitochondriale Enzephalomyopathie mit Laktatazidose und schlaganfallähnlichen Episoden. MERRF. Myoklonusepilepsie mit „ ... 1995) Clinical spectrum of the MELAS mutation in a large German family. Acta Neurol Scand 92:409-415.CrossRefPubMedGoogle ...
CSF = cerebrospinal fluid; MELAS = mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MERRF = myoclonus ... CSF = cerebrospinal fluid; MELAS = mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MERRF = myoclonus ... Mitochondrial disorders (1:30,000; e.g., MELAS syndrome [rare], MERRF syndrome, Kearns-Sayre syndrome [rare]) ... Mitochondrial disorders (1:30,000; e.g., MELAS syndrome [rare], MERRF syndrome, Kearns-Sayre syndrome [rare]) ...
D. S. Kim, D. S. Jung, K. H. Park et al., "Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.," ... M. Chol, S. Lebon, P. Bénit et al., "The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a ...
MELAS, MERRF, NARP *Barth syndrome Related Marcus Autism Center Programs. Clinical Assessment and Diagnosis ...
MELAS, MERRF, NARP. *Barth syndrome. Additional Resources:. *United Mitochondrial Disease Foundation. *The Mitochondrial ...
MERRF is a progressive disease that affects multiple systems of the body. In most cases, signs of MERRF appear during childhood ... Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS). MELAS is a progressive disease that ... Most patients with MELAS will have a stroke-like episode by age 40. Stroke-like episodes can involve seizures, loss of vision, ... Most patients with MERRF have myoclonus. Epileptic seizures, ataxia and peripheral neuropathy are common features. Hearing loss ...
Melas symptoms include brain dysfunction (encephalopathy) with seizures and headaches, muscle disease with lactic acid build-up ... MELAS syndrome, a rare form of dementia, is caused by mutations in the genetic material (DNA) in the mitochondria. ... a type of epilepsy called MERRF which stands for Myoclonus Epilepsy with Ragged Red Fibers; and ... MELAS is a rare genetic disorder which results in stroke and dementia. MELAS is an abbreviation that stands for Mitochondrial ...
Episodes (MELAS), Mut. 3243A,G mtDNA. *. Myoclonic Epilepsy Associated with Ragged Red Fibers (MERRF), ...
Myoclonic epilepsy with ragged red fibres(MERRF). -Mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like ...
MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes). *MERRF (myoclonic epilepsy with ragged red ...
a type of epilepsy called MERRF which stands for myoclonic epilepsy with Ragged Red Fibers; and ... a form of dementia called MELAS for mitochondrialencephalopathy, lactic acidosis and stroke-like episodes. ...
  • This combination of signs and symptoms is called MERRF/MELAS overlap syndrome. (medlineplus.gov)
  • Mutations that cause MERRF/MELAS overlap syndrome each change single nucleotides in the MT-TL1 gene. (medlineplus.gov)
  • Researchers have not determined how these genetic changes cause the signs and symptoms of MERRF/MELAS overlap syndrome. (medlineplus.gov)
  • Yes the sample will be collected from home for this MERRF/MELAS overlap syndrome MT-TS2 related (NGS Sequencing: MT-TS2) for free of cost from Delhi, Mumbai, Kolkata Chennai, Bnaglaore, Hyderabad, ahmedabad and pune. (dnalabsindia.com)
  • You can make the payment online and through debit card, credit card & net banking for MERRF/MELAS overlap syndrome MT-TS2 related (NGS Sequencing: MT-TS2). (dnalabsindia.com)
  • all MERRF/MELAS overlap syndrome MT-TS2 related (NGS Sequencing: MT-TS2) samples are processed twice in order to double-check the result. (dnalabsindia.com)
  • It is very easy to order a MERRF/MELAS overlap syndrome MT-TS2 related (NGS Sequencing: MT-TS2). (dnalabsindia.com)
  • MELAS syndrome Examples include MELAS syndrome and MERRF syndrome. (wikipedia.org)
  • MERRF syndrome. (healthwise.net)
  • MELAS syndrome. (healthwise.net)
  • The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency," Journal of Medical Genetics , vol. 40, no. 3, pp. 188-191, 2003. (hindawi.com)
  • Such diseases, including Leigh syndrome (subacute necrotising encephalomyelopathy) and myoclonic epilepsy with ragged red fibers (MERRF), may be caused by mutations in either mitochondrial or nuclear DNA ( 1 - 3 ). (frontiersin.org)
  • However, both Leigh syndrome and MERRF exhibit considerable clinical and genetic heterogeneity. (frontiersin.org)
  • A8344G mutations of the mitochondrial DNA (mtDNA) are associated with Leigh syndrome, MERRF, and other diseases ( 8 - 10 ). (frontiersin.org)
  • Here, we present the first reported case of overlapping Leigh syndrome/MERRF, which developed almost simultaneously, in an adolescent patient with an mtDNA A8344G mutation. (frontiersin.org)
  • MELAS syndrome is caused by mutations in the genetic material ( DNA ) in the mitochondria . (rxlist.com)
  • However, most patients with MELAS syndrome show symptoms before they are 20 years old. (rxlist.com)
  • In order to obtain some insight into the cellular mechanisms of neurodegeneration, we examined cultured fibroblasts from patients with the MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) syndrome, which is most frequently caused by a mutation in the mitochondrial tRNA for leucine. (portlandpress.com)
  • The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome. (cipf.es)
  • Another characteristic clinical syndrome is MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes). (bmj.com)
  • 10 Myoclonic epilepsy with ataxia, encephalopathy, and a myopathy would favour the MERRF syndrome (myoclonic epilepsy with ragged red fibres), which is usually due to a point mutation in the mitochondrial lysine transfer RNA gene at position 8344. (bmj.com)
  • MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome is a rare disorder that begins in childhood, usually between two and fifteen years of age, and mostly affects the nervous system and muscles. (rarediseases.org)
  • MELAS is caused by mutations in mitochondrial DNA and in one patient, this syndrome has been associated with mutations in a nuclear gene, POLG1. (rarediseases.org)
  • Symptoms of MELAS syndrome usually begin between the ages of two and fifteen years, but delayed onset cases have also been reported between fifteen and forty years and late onset cases after forty years. (rarediseases.org)
  • Symptoms and physical findings associated with MELAS syndrome vary greatly between affected individuals in the same family and between different families. (rarediseases.org)
  • The distinguishing feature in MELAS syndrome is the recurrence of stroke-like episodes. (rarediseases.org)
  • People with MELAS syndrome have an accumulation of lactic acid in the blood (lactic acidosis), that can lead to vomiting, abdominal pain, fatigue, muscle weakness and difficulty breathing. (rarediseases.org)
  • Individuals with MELAS syndrome may also have episodes of confusion and hallucinations often due to a preceding fever (febrile illness) and/or headache. (rarediseases.org)
  • Some cases of MELAS syndrome appear to occur as the result of a new spontaneous mutation in a mitochondrial gene and are not inherited. (rarediseases.org)
  • In addition, mutations in a nuclear gene (POLG1) have been associated with MELAS syndrome in one case. (rarediseases.org)
  • MELAS syndrome is a rare disorder that affects males and females in equal numbers. (rarediseases.org)
  • Although rare, MELAS syndrome is probably the most common type of mitochondrial myopathy caused by mutations in mtDNA. (rarediseases.org)
  • Some researchers believe that mitochondrial myopathies may go unrecognized and underdiagnosed in the general population, making it difficult to determine the true frequency of disorders like MELAS syndrome. (rarediseases.org)
  • Publications] Nakamura M.: 'A novel point mutation in the mitochondrial t-RNA-Ser (UCN) gene detected in a family with MERRF/MELAS overlap syndrome. (nii.ac.jp)
  • Publications] Nakamura M,Nakano S,Goto Y,Ozawa M,Nagahama Y,Fukuyama H,Akiguchi I,Kaji R,Kimura J: 'A novel point mutation in the mitochondrial t-RNA-Ser (UCN) gene detected in a family with MERRF/MELAS overlap syndrome. (nii.ac.jp)
  • Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. (humpath.com)
  • The gene has been implicated in several mitochondrial disorders including MELAS Syndrome, Leigh Syndrome, Maternally Inherited Diabetes and Deafness (MIDD), Sudden Infant Death Syndrome (SIDS), Cyclic Vomiting Syndrome (CVS), Mitochondrial Complex IV Deficiency, Age Related Macular Degeneration 1 (ARMD1) and Myoclonic Epilepsy associated with Ragged-Red Fibers (MERRF). (cags.org.ae)
  • myoclonic epilepsy with ragged red fibers: MERRF, Kearns-Sayre syndrome: KSS, among others) or may present with variable symptoms not falling into a defined clinical disorder 2,3. (medworm.com)
  • After stratification by the specific phenotypes, ccf-mtDNA was significantly increased in the Mitochondrial Encephalomyopathy Lactic Acidosis Stroke-like episodes syndrome (MELAS) group, and FGF21 and GDF-15 were significantl. (medworm.com)
  • A number of specific mitochondrial disorders have been associated with Complex I deficiency including: Leber's hereditary optic neuropathy (LHON), MELAS, MERRF, and Leigh Syndrome (LS). (umdf.org)
  • This form of Complex I deficiency may cause Leigh Syndrome and MELAS. (umdf.org)
  • MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. (mendelian.co)
  • Melas Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, melas syndrome, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. (mendelian.co)
  • MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific point mutations of mitochondrial DNA (mtDNA). (nih.gov)
  • Several mutations in the MT-TL1 gene have been identified in people with a condition called mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (medlineplus.gov)
  • Mutations in the MT-TL1 gene have been found in a few people with features of myoclonic epilepsy with ragged-red fibers (MERRF). (medlineplus.gov)
  • The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean unrelated families (or isolated patients ) with MELAS or MERRF . (bvsalud.org)
  • MELAS and all other mitochondrial diseases were not well understood before it was discovered that they were due to mutations in the chromosomes of the mitochondria. (rxlist.com)
  • MELAS is caused by mutations in mitochondrial DNA (mtDNA). (rarediseases.org)
  • Mutations in the mtDNA gene MT-TL1 are associated with MELAS in approximately 80% of cases. (rarediseases.org)
  • Publications] Goto Y.: 'Clinical features of MELAS and mitochondrial DNA mutations. (nii.ac.jp)
  • Myoclonic epilepsy with ragged-red fibers (MERRF) is a mitochondrial disease usually caused by point mutations in transfer RNA genes encoded by mitochondrial DNA. (sparrho.com)
  • MELAS is an abbreviation that stands for Mitochondrial Encephalopathy , Lactic acidosis , and Stroke -like episodes. (rxlist.com)
  • As with pediatric presentations, there are commonly recognized clinical phenotypes in adult-onset mitochondrial disease including chronic progressive external ophthalmoplegia, subacute blindness associated with Leber hereditary optic neuropathy (LHON), MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes), and MERRF (myoclonic epilepsy and ragged red fibers). (sciencemag.org)
  • Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Evaluation (TYMP, RRM2B, MELAS). (mendelian.co)
  • As mentioned above, a few individuals with a mutation in the MT-TH gene have features of both myoclonic epilepsy with ragged-red fibers (MERRF) and MELAS. (medlineplus.gov)
  • Myoclonus, generalized seizures, ataxia, and the presence of ragged red fibers (RRF) upon muscular biopsy characterize MERRF ( 5 - 7 ). (frontiersin.org)
  • Publications] Tanaka S.: 'Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF). (nii.ac.jp)
  • Lack of xm5s2U modification in the mutant mitochondrial tRNALys from myoclonus epilepsy associated with ragged red fibers (MERRF), results in a marked defect in whole mitochondrial translation. (ncl.edu.tw)
  • The m.3243A>G in the tRNA (Leu(UUR)) was predominantly observed in 10 MELAS families , and followed by m.8344A>G in the tRNA(Lys) of 4 MERRF families . (bvsalud.org)
  • Calvaruso MA, Willemsen MA, Rodenburg RJ, van den Brand M, Smeitink JA, Nijtmans L. New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS). (medlineplus.gov)
  • La mutazione puntiforme più comune è la mutazione A3243G nel gene tRNA Leu(UUR) del DNA mitocondriale umano ed è associata alla sindrome MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes). (unipd.it)
  • Some cases of progressive external ophthalmoplegia result from the A3243G mutation, which is the same genetic change that typically causes MELAS and MIDD (described above). (medlineplus.gov)
  • The A3243G mutation (described above) is the most common mutation in MELAS. (medlineplus.gov)
  • The most common mitochondrial mutation causing MELAS is the A3243G mutation. (giblinlab.org)
  • A small number of people with the features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) have a mutation in the MT-TH gene. (medlineplus.gov)
  • a form of dementia called MELAS for mitochondrialencephalopathy, lactic acidosis and stroke-like episodes . (rxlist.com)
  • Episodes (MELAS), Mut. (uni-halle.de)
  • Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) is a multi-system disorder that can cause exercise intolerance, migraines, gastrointestinal issues, memory loss, seizures and strokes. (giblinlab.org)
  • Some patients with MELAS or MERRF may develop seizures. (newcastle-mitochondria.com)
  • If you have an epileptic seizure you cannot drive for at least six months, but additional seizures or a predisposing factor such as MELAS or MERFF makes this more likely to be one year. (newcastle-mitochondria.com)
  • Researchers have not determined how changes in mtDNA lead to the specific signs and symptoms of MELAS. (medlineplus.gov)
  • What are the symptoms of MELAS? (rxlist.com)
  • When do people with MELAS develop symptoms? (rxlist.com)
  • 3. The composition of claim 1 or 2 for preventing and/or treating the expression of clinical symptoms in a disease caused by mitochondrial dysfunction, characterized in that said disease caused by mitochondrial dysfunction is a cerebral apoplexy-like episode of MELAS or a warning symptom thereof. (freepatentsonline.com)
  • It is in clinical development stage intended to document the use for chronic oral treatment in primary genetic mitochondrial disorders such as MELAS, KSS, PEO, Pearson and MERRF. (menafn.com)
  • The most common point of mutation is adenine to guanine transition at nucleotide position (nt) 3243 of human mtDNA that is associated with the neuromuscular disease MELAS. (unipd.it)
  • Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts. (sparrho.com)
  • Despite these physiological perturbations, the MELAS fibroblasts had normal concentrations of ATP. (portlandpress.com)
  • Coenzyme Q10 levels, as well as mitochondrial respiratory chain activity, and mitochondrial protein expression levels were significantly decreased in MERRF fibroblasts. (sparrho.com)
  • Mitotracker staining and imaging analysis of individual mitochondria indicated the presence of small, rounded, depolarized mitochondria in MERRF fibroblasts. (sparrho.com)
  • All these abnormalities in patient-derived fibroblasts and cybrids were partially restored by CoQ10 supplementation, indicating that these cell culture models may be suitable for screening and validation of novel drug candidates for MERRF disease. (sparrho.com)
  • These findings contribute to our understanding of the mechanisms involved in mitochondrial dysregulation associated with diseases such as MELAS and MERRF and may help to identify new therapeutic approaches. (irbbarcelona.org)
  • Histochemical and molecular genetic study of MELAS and MERRF in Korean patients. (hindawi.com)
  • MELAS is a rare genetic disorder which results in stroke and dementia . (rxlist.com)
  • DiMauro, S. Gene Reviews (2005) MERRF. (genedx.com)
  • DiMauro, S. Gene Reviews (2005) MELAS. (genedx.com)
  • If neurons in MELAS patients have similar physiological abnormalities, their functional properties and long-term viability may be compromised. (portlandpress.com)
  • MERRF and MELAS), acute infantile liver failure, and infantile hypertrophic cardiomyopathy. (cipf.es)
  • These individuals also have some features of MELAS (described above). (medlineplus.gov)
  • It remains unknown why this mutation causes the overlapping features of MERRF and MELAS. (medlineplus.gov)
  • The diagnosis of MELAS is usually suspected on clinical grounds. (rxlist.com)
  • MERRF affects the nervous system, muscles, and other areas of the body. (healthwise.net)
  • MELAS affects many areas of the body, including the brain, nervous system, and muscles. (healthwise.net)