A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
An electron transport chain complex that catalyzes the transfer of electrons from SUCCINATE to CYTOCHROME C. It includes ELECTRON TRANSPORT COMPLEX II and ELECTRON TRANSPORT COMPLEX III.
A characteristic symptom complex.
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.
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)
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.
Various physiological or molecular disturbances that impair ENDOPLASMIC RETICULUM function. It triggers many responses, including UNFOLDED PROTEIN RESPONSE, which may lead to APOPTOSIS; and AUTOPHAGY.
An individual in which both alleles at a given locus are identical.
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.
A type of pancreatic cell representing about 50-80% of the islet cells. Beta cells secrete INSULIN.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. (1/62)

Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus and progressive optic atrophy. mtDNA deletions have been described, and a gene (WFS1) recently has been identified, on chromosome 4p16, encoding a predicted 890 amino acid transmembrane protein. Direct DNA sequencing was done to screen the entire coding region of the WFS1 gene in 30 patients from 19 British kindreds with Wolfram syndrome. DNA was also screened for structural rearrangements (deletions and duplications) and point mutations in mtDNA. No pathogenic mtDNA mutations were found in our cohort. We identified 24 mutations in the WFS1 gene: 8 nonsense mutations, 8 missense mutations, 3 in-frame deletions, 1 in-frame insertion, and 4 frameshift mutations. Of these, 23 were novel mutations, and most occurred in exon 8. The majority of patients were compound heterozygotes for two mutations, and there was no common founder mutation. The data were also analyzed for genotype-phenotype relationships. Although some interesting cases were noted, consideration of the small sample size and frequency of each mutation indicated no clear-cut correlations between any of the observed mutations and disease severity. There were no obvious mutation hot spots or clusters. Hence, molecular screening for Wolfram syndrome in affected families and for Wolfram syndrome-carrier status in subjects with psychiatric disorders or diabetes mellitus will require complete analysis of exon 8 and upstream exons.  (+info)

Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. (2/62)

Wolfram syndrome, which is sometimes referred to as "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an autosomal recessive neurodegenerative disorder for which only insulin-dependent diabetes mellitus and optic atrophy are necessary to make the diagnosis. Researchers have mapped Wolfram syndrome to chromosome 4p16.1, and, recently, a gene encoding a putative transmembrane protein has been cloned and mutations have been identified in patients. To pursue the possibility of locus heterogeneity, 16 patients from four different families were recruited. These patients, who have the Wolfram syndrome phenotype, also have additional features that have not previously been reported. There is an absence of diabetes insipidus in all affected family members. In addition, several patients have profound upper gastrointestinal ulceration and bleeding. With the use of three microsatellite markers (D4S432, D4S3023, and D4S2366) reported to be linked to the chromosome 4p16.1 locus, we significantly excluded linkage in three of the four families. The two affected individuals in one family showed homozygosity for all three markers from the region of linkage on chromosome 4p16.1. For the other three families, genetic heterogeneity for Wolfram syndrome was verified by demonstration of linkage to chromosome 4q22-24. In conclusion, we report the unique clinical findings and linkage-analysis results of 16 patients with Wolfram syndrome and provide further evidence for the genetic heterogeneity of this disorder. We also provide data on a new locus that plays a role in the etiology of insulin-dependent diabetes mellitus.  (+info)

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. (3/62)

Dominantly inherited progressive hearing loss DFNA38 is caused by heterozygosity for a novel mutation in WFS1, the gene for recessively inherited Wolfram syndrome. Wolfram syndrome is defined by juvenile diabetes mellitus and optic atrophy and may include progressive hearing loss and other neurological symptoms. Heterozygotes for other Wolfram syndrome mutations generally have normal hearing. Dominant deafness defined by DFNA38 is more severe than deafness of Wolfram syndrome patients and lacks any syndromic features. In a six-generation kindred from Newfoundland, Canada, WFS1 Ala716Thr (2146 G-->A) was shared by all deaf members of the family and was specific to deaf individuals. The causal relationship between this missense mutation and deafness was supported by two observations based on haplotype and mutation analysis of the kindred. First, a relative homozygous for the mutation was diagnosed at age 3 years with insulin-dependent diabetes mellitus, the central feature of Wolfram syndrome. Second, two relatives with normal hearing had an identical haplotype to that defining DFNA38, with the exception of the base pair at position 2146. Other rare variants of WFS1 co-inherited with deafness in the family could be excluded as disease-causing mutations on the basis of this hearing-associated haplotype. The possibility that 'mild' mutations in WFS1 might be a cause of non-syndromic deafness in the general population should be explored.  (+info)

WFS1 mutations in Spanish patients with diabetes mellitus and deafness. (4/62)

Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterised by early onset diabetes mellitus and progressive optic atrophy, as well as other clinical features such as deafness, diabetes insipida, renal tract abnormalities and diverse psychiatric illnesses. A gene responsible for WS was identified in 4p16.1 (WFS1). It encodes a putative 890 amino acid transmembrane protein expressed in a wide spectrum of tissues. Recently, a new locus for WS has been located on 4q22-24, providing additional evidence for the genetic heterogeneity of this syndrome. We have studied the presence of WFS1 variants in three groups of individuals: patients with diabetes mellitus, patients with deafness and patients with both conditions. A fourth group of healthy subjects was used as control. We have identified a total of 18 nucleotide changes in the WFS1 gene: three mutations and 15 polymorphisms. Six of these changes were previously undescribed. Four of the 15 polymorphisms studied among the patients group present statistical differences in the allelic and genotypic distribution when comparing affected vs control groups.  (+info)

Molecular characterization of WFS1 in patients with Wolfram syndrome. (5/62)

Wolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing impairment. A gene responsible for Wolfram syndrome (WFS1) has been identified on the short arm of chromosome 4 and subsequently mutations in WFS1 have been described. We have screened 12 patients with Wolfram syndrome from nine Dutch families for mutations in the WFS1-coding region by single-strand conformation polymorphism analysis and direct sequencing. Furthermore, we analyzed the mitochondrial genome for gross abnormalities and the A3243G point mutation in the leucyl-tRNA gene, because Wolfram syndrome shows phenotypic similarities with mitochondrial disease. Seven mutations in WFS1 were identified in six of nine families: two missense mutations, one frameshift mutation, one splice donor site mutation, and three deletions. In addition, a splice variant near the 5'UTR of WFS1 was identified, present in patient as well as control RNA samples in various percentages, alternating the translation initiation consensus sequence. Whether this WFS1 splice variant displays impaired translation efficiency remains to be determined. No MtDNA lesions were identified in any of the Wolfram patients. Our results demonstrate the usefulness of molecular analysis of WFS1 in the refinement of clinical diagnostic criteria for Wolfram syndrome that helps to dissect the clinically overlapping syndromes sharing diabetes mellitus and optic atrophy.  (+info)

Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. (6/62)

Mutations of the WFS1 gene are responsible for Wolfram syndrome, a rare, recessive disorder characterized by early-onset, non-autoimmune diabetes mellitus, optic atrophy and further neurological and endocrinological abnormalities. The WFS1 gene encodes wolframin, a putative multispanning membrane glycoprotein of the endoplasmic reticulum. The function of wolframin is completely unknown. In order to characterize wolframin, we have generated polyclonal antibodies against both hydrophilic termini of the protein. Wolframin was found to be ubiquitously expressed with highest levels in brain, pancreas, heart and insulinoma beta-cell lines. Analysis of the structural features provides experimental evidence that wolframin contains nine transmembrane segments and is embedded in the membrane in an N(cyt)/C(lum) topology. Wolframin assembles into higher molecular weight complexes of approximately 400 kDa in the membrane. Pulse-chase experiments demonstrate that during maturation wolframin is N-glycosylated but lacks proteolytical processing. Moreover, N-glycosylation appears to be essential for the biogenesis and stability of wolframin. Here we investigate, for the first time, the molecular mechanisms that cause loss-of-function of wolframin in affected individuals. In patients harboring nonsense mutations complete absence of the mutated wolframin is caused by instability and rapid decay of WFS1 nonsense transcripts. In a patient carrying a compound heterozygous missense mutation, R629W, we found markedly reduced steady-state levels of wolframin. Pulse-chase experiments of mutant wolframin expressed in COS-7 cells indicated that the R629W mutation leads to instability and strongly reduced half-life of wolframin. Thus, the Wolfram syndrome in patients investigated here is caused by reduced protein dosage rather than dysfunction of the mutant wolframin.  (+info)

Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion. (7/62)

Wolfram syndrome, an autosomal recessive disorder characterized by juvenile-onset diabetes mellitus and optic atrophy, is caused by mutations in the WFS1 gene. In order to gain insight into the pathophysiology of this disease, we disrupted the wfs1 gene in mice. The mutant mice developed glucose intolerance or overt diabetes due to insufficient insulin secretion in vivo. Islets isolated from mutant mice exhibited a decrease in insulin secretion in response to glucose. The defective insulin secretion was accompanied by reduced cellular calcium responses to the secretagogue. Immunohistochemical analyses with morphometry and measurement of whole-pancreas insulin content demonstrated progressive beta-cell loss in mutant mice, while the alpha-cell, which barely expresses WFS1 protein, was preserved. Furthermore, isolated islets from mutant mice exhibited increased apoptosis, as assessed by DNA fragment formation, at high concentration of glucose or with exposure to endoplasmic reticulum-stress inducers. These results strongly suggest that WFS1 protein plays an important role in both stimulus-secretion coupling for insulin exocytosis and maintenance of beta-cell mass, deterioration of which leads to impaired glucose homeostasis. These WFS1 mutant mice provide a valuable tool for understanding better the pathophysiology of Wolfram syndrome as well as WFS1 function.  (+info)

Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. (8/62)

We have recently identified a point mutation in the mitochondrially encoded tRNA(Leu(UUR)) gene which associates with a combination of type II diabetes mellitus and sensorineural hearing loss in a large pedigree. To extend this finding to other syndromes which exhibit a combination of diabetes mellitus and hearing loss we have sequenced all mitochondrial tRNA genes from two patients with the Wolfram syndrome, a rare congenital disease characterized by diabetes mellitus, deafness, diabetes insipidus and optic atrophy. In each patient, a single different mutation was identified. One is an A to G transition mutation at np 12,308 in tRNA(Leu(CUN)) gene in a region which is highly conserved between species during evolution. This mutation has been described by Lauber et al. (1) as associating with chronic progressive external ophthalmoplegia (CPEO). The other is a C to T transition mutation at np 15,904 in tRNA(Thr) gene. Both mutations are also present in the general population (frequency tRNA(Leu(CUN)) mutation 0.16, tRNA(Thr) mutation 0.015). These findings suggest that evolutionarily conserved regions in mitochondrial tRNA genes can exhibit a significant polymorphism in humans, and that the mutation at np 12,308 in the tRNA(Leu(CUN)) gene is unlikely to be associated with CPEO and Wolfram syndrome.  (+info)

Wolfram Syndrome is a rare, progressive, genetic disorder that affects multiple organ systems, particularly the eyes, brain, endocrine system, and hearing. It is characterized by the combination of several features including diabetes insipidus (DI), diabetes mellitus (DM), optic nerve atrophy, and various neurological symptoms. The onset of this syndrome typically occurs in childhood.

The two major types of Wolfram Syndrome are WFS1 and WFS2, with WFS1 being the most common form. They are caused by mutations in different genes (WFS1 and CISD2 respectively), both of which play a role in maintaining the health of cells in the body, particularly those in the pancreas, eyes, and ears.

The symptoms of Wolfram Syndrome can vary widely among affected individuals, but often include:
- Diabetes insipidus (DI): This is characterized by excessive thirst and urination due to problems with the body's regulation of fluids.
- Diabetes mellitus (DM): This type of diabetes results from issues with insulin production or usage, leading to high blood sugar levels.
- Optic nerve atrophy: This can cause vision loss, typically starting in early childhood and progressing over time.
- Neurological symptoms: These may include hearing loss, problems with balance and coordination, difficulty swallowing, and neuropsychiatric issues such as depression and anxiety.

Currently, there is no cure for Wolfram Syndrome, and treatment primarily focuses on managing the individual symptoms of the disorder.

Human chromosome pair 4 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical or very similar in length and gene content. Chromosomes are made up of DNA, which contains genetic information, and proteins that package and organize the DNA.

Human chromosomes are numbered from 1 to 22, with chromosome pair 4 being one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome pair 4 is a medium-sized pair and contains an estimated 1,800-2,000 genes. These genes provide instructions for making proteins that are essential for various functions in the body, such as development, growth, and metabolism.

Abnormalities in chromosome pair 4 can lead to genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion of part of the short arm of chromosome 4, and 4p16.3 microdeletion syndrome, which is caused by a deletion of a specific region on the short arm of chromosome 4. These conditions can result in developmental delays, intellectual disability, physical abnormalities, and other health problems.

Succinate cytochrome c oxidoreductase, also known as complex II or succinate-Q-reductase, is an enzyme complex in the electron transport chain that plays a crucial role in cellular respiration. It is located in the inner mitochondrial membrane of eukaryotic cells and the cytoplasmic membrane of prokaryotic cells.

Complex II consists of four subunits ( flavoprotein, iron-sulfur protein, and two cytochromes ) that catalyze the oxidation of succinate to fumarate, reducing FAD to FADH2 in the process. The FADH2 then transfers its electrons to the iron-sulfur protein and subsequently to ubiquinone (Q), reducing it to ubiquinol (QH2). This transfer of electrons drives the proton pumping across the membrane, contributing to the formation of a proton gradient that is used for ATP synthesis.

Complex II is unique among the electron transport chain complexes because it can operate independently of the other complexes and does not span the entire width of the inner mitochondrial membrane. It also plays a role in the regulation of reactive oxygen species (ROS) production, making it an important target for understanding various diseases, including neurodegenerative disorders and cancer.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:

1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction

Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:

1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.

Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Endoplasmic reticulum (ER) stress refers to a cellular condition characterized by the accumulation of misfolded or unfolded proteins within the ER lumen, leading to disruption of its normal functions. The ER is a membrane-bound organelle responsible for protein folding, modification, and transport, as well as lipid synthesis and calcium homeostasis. Various physiological and pathological conditions can cause an imbalance between the rate of protein entry into the ER and its folding capacity, resulting in ER stress.

To cope with this stress, cells have evolved a set of signaling pathways called the unfolded protein response (UPR). The UPR aims to restore ER homeostasis by reducing global protein synthesis, enhancing ER-associated degradation (ERAD) of misfolded proteins, and upregulating the expression of genes involved in protein folding, modification, and quality control.

The UPR is mediated by three major signaling branches:

1. Inositol-requiring enzyme 1α (IRE1α): IRE1α is an ER transmembrane protein with endoribonuclease activity that catalyzes the splicing of X-box binding protein 1 (XBP1) mRNA, leading to the expression of a potent transcription factor, spliced XBP1 (sXBP1). sXBP1 upregulates genes involved in ERAD and protein folding.
2. Activating transcription factor 6 (ATF6): ATF6 is an ER transmembrane protein that, upon ER stress, undergoes proteolytic cleavage to release its cytoplasmic domain, which acts as a potent transcription factor. ATF6 upregulates genes involved in protein folding and degradation.
3. Protein kinase R-like endoplasmic reticulum kinase (PERK): PERK is an ER transmembrane protein that phosphorylates the α subunit of eukaryotic initiation factor 2 (eIF2α) upon ER stress, leading to a global reduction in protein synthesis and preferential translation of activating transcription factor 4 (ATF4). ATF4 upregulates genes involved in amino acid metabolism, redox homeostasis, and apoptosis.

These three branches of the UPR work together to restore ER homeostasis by increasing protein folding capacity, reducing global protein synthesis, and promoting degradation of misfolded proteins. However, if the stress persists or becomes too severe, the UPR can trigger cell death through apoptosis.

In summary, the unfolded protein response (UPR) is a complex signaling network that helps maintain ER homeostasis by detecting and responding to the accumulation of misfolded proteins in the ER lumen. The UPR involves three main branches: IRE1α, ATF6, and PERK, which work together to restore ER homeostasis through increased protein folding capacity, reduced global protein synthesis, and enhanced degradation of misfolded proteins. Persistent or severe ER stress can lead to the activation of cell death pathways by the UPR.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

A frameshift mutation is a type of genetic mutation that occurs when the addition or deletion of nucleotides in a DNA sequence is not divisible by three. Since DNA is read in groups of three nucleotides (codons), which each specify an amino acid, this can shift the "reading frame," leading to the insertion or deletion of one or more amino acids in the resulting protein. This can cause a protein to be significantly different from the normal protein, often resulting in a nonfunctional protein and potentially causing disease. Frameshift mutations are typically caused by insertions or deletions of nucleotides, but they can also result from more complex genetic rearrangements.

Insulin-secreting cells, also known as beta cells, are a type of cell found in the pancreas. They are responsible for producing and releasing insulin, a hormone that regulates blood glucose levels by allowing cells in the body to take in glucose from the bloodstream. Insulin-secreting cells are clustered together in the pancreatic islets, along with other types of cells that produce other hormones such as glucagon and somatostatin. In people with diabetes, these cells may not function properly, leading to an impaired ability to regulate blood sugar levels.

Genetic heterogeneity is a phenomenon in genetics where different genetic variations or mutations in various genes can result in the same or similar phenotypic characteristics, disorders, or diseases. This means that multiple genetic alterations can lead to the same clinical presentation, making it challenging to identify the specific genetic cause based on the observed symptoms alone.

There are two main types of genetic heterogeneity:

1. Allelic heterogeneity: Different mutations in the same gene can cause the same or similar disorders. For example, various mutations in the CFTR gene can lead to cystic fibrosis, a genetic disorder affecting the respiratory and digestive systems.
2. Locus heterogeneity: Mutations in different genes can result in the same or similar disorders. For instance, mutations in several genes, such as BRCA1, BRCA2, and PALB2, are associated with an increased risk of developing breast cancer.

Genetic heterogeneity is essential to consider when diagnosing genetic conditions, evaluating recurrence risks, and providing genetic counseling. It highlights the importance of comprehensive genetic testing and interpretation for accurate diagnosis and appropriate management of genetic disorders.

Mitochondrial DNA (mtDNA) is the genetic material present in the mitochondria, which are specialized structures within cells that generate energy. Unlike nuclear DNA, which is present in the cell nucleus and inherited from both parents, mtDNA is inherited solely from the mother.

MtDNA is a circular molecule that contains 37 genes, including 13 genes that encode for proteins involved in oxidative phosphorylation, a process that generates energy in the form of ATP. The remaining genes encode for rRNAs and tRNAs, which are necessary for protein synthesis within the mitochondria.

Mutations in mtDNA can lead to a variety of genetic disorders, including mitochondrial diseases, which can affect any organ system in the body. These mutations can also be used in forensic science to identify individuals and establish biological relationships.

"wolfram syndrome research Fumi Urano". Unravel Wolfram Syndrome. Retrieved 2 November 2018. "Wolfram syndrome". ghr.nlm.nih.gov ... Two genetic forms have been described: Wolfram syndrome 1 (WFS1), and Wolfram syndrome 2 (WFS2). The WFS1 or wolframin gene ... "Clinical Trials". Wolfram Syndrome International Registry. 5 October 2016. Retrieved 2 November 2018. "Wolfram syndrome - ... thus slowing progression of Wolfram syndrome.[citation needed] A three tiered approach toward the treatment of Wolfram syndrome ...
... is also known to be less severe than Wolfram syndrome itself. Delusional disorder Mair H, Fowler N, ... "Orphanet: Wolfram like syndrome". www.orpha.net. Retrieved 2022-10-07. "Wolfram-like syndrome (Concept Id: C3280358) - MedGen ... "Unravel Wolfram Syndrome". Unravel Wolfram Syndrome. Retrieved 2022-10-07. (CS1 Spanish-language sources (es), CS1 Czech- ... Symptoms are another example of the difference between Wolfram syndrome and Wolfram-like syndrome; intellectual disabilities, ...
Polymeropoulos MH, Swift RG, Swift M (Jan 1995). "Linkage of the gene for Wolfram syndrome to markers on the short arm of ... 2001). "WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells ... 2002). "Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss". Hum. ... 2002). "Is there a relationship between Wolfram syndrome carrier status and suicide?". Am. J. Med. Genet. 114 (3): 343-6. doi: ...
Wolfram syndrome. Inflammatory/infective: Guillain-Barré syndrome, poliomyelitis, Lyme disease. Cancer: brainstem glioma, ... In contrast, pseudobulbar palsy is a clinical syndrome similar to bulbar palsy but in which the damage is located in upper ...
Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]. CDGSH iron sulfur domain GRCh38: ... Shu SG, Tsai CR, Chi CS (November 2003). "Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings". J. Formos ... is responsible for Wolfram syndrome 2". Am. J. Hum. Genet. 81 (4): 673-83. doi:10.1086/520961. PMC 2227919. PMID 17846994. ... The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2". J. Mol. Biol. 392 (1): 143-53. doi:10.1016/j.jmb.2009.06.079 ...
Wolfram's syndrome is an autosomal recessive neurodegenerative disorder that first becomes evident in childhood. It consists of ... Donohue syndrome, and Rabson-Mendenhall syndrome, among others. Maturity onset diabetes of the young constitute 1-5% of all ... Barrett TG (September 2001). "Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes". Best Practice & Research ...
Wolfram syndrome (also called DIDMOAD) is characterised by diabetes mellitus, sensorineural deafness, and optic atrophy.[ ...
Members 6 and 8 are associated with Cockayne syndrome. Wolfram Siede; Friedberg, Errol C.; Walker, Graham S. (1995). "Chapter 8 ...
Wolfram; Baig, Shahid Mahmood; Alkuraya, Fowzan S.; Shen, Qian; Xu, Hong; Antignac, Corinne; Lifton, Richard P.; Mane, Shrikant ... A broad classification of nephrotic syndrome based on underlying cause: Nephrotic syndrome is often classified histologically: ... Cushing's syndrome Nephrotic syndrome has many causes and may either be the result of a glomerular disease that can be either ... called secondary nephrotic syndrome. Primary causes of nephrotic syndrome are usually described by their histology: Minimal ...
Jamil, Wiqqas; Allami, Mohammad K.; Mbakada, Nikita; Kluge, Wolfram (December 2009). "Total knee arthroplasty in a patient with ... Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "Hardcastle Syndrome", Syndromes: Rapid ... Hardcastle syndrome is a rare genetic disorder on chromosome 9 at 9p22-p21. It affects the long bones. There is a high risk for ... "Hardcastle syndrome". TheFreeDictionary.com. Retrieved 2019-06-05. (Articles with short description, Short description is ...
Birtel, Johannes; von Landenberg, Christina; Gliem, Martin; Gliem, Carla; Reimann, Jens; Kunz, Wolfram S.; Herrmann, Philipp; ... Syndromes affecting the heart, Syndromes affecting the eye, Syndromes affecting hearing, Syndromes including diabetes mellitus) ... Rare syndromes, Syndromes affecting the endocrine system, Disorders of ocular muscles, binocular movement, accommodation and ... Kearns-Sayre syndrome occurs spontaneously in the majority of cases. In some cases it has been shown to be inherited through ...
... a naming system for one-dimensional cellular automaton rules introduced by Stephen Wolfram Wolfram syndrome, a genetic disorder ... Look up Wolfram or wolfram in Wiktionary, the free dictionary. Wolfram may refer to: Wolfram (name) Wolfram, the original name ... Wolfram, Queensland, a former mining town in Australia The Wolfram, a fictional military airship in the air combat video game ... Aces All pages with titles containing Wolfram This disambiguation page lists articles associated with the title Wolfram. If an ...
Chung has researched mutations and disease associations with Wolfram syndrome, Wolman disease, Leigh syndrome, glycogen storage ... Chilton-Okur-Chung neurodevelopmental syndrome, and Chung-Jansen syndrome. Chung worked primarily in research related to the ... rare cancer syndromes, arrhythmia, seizures, and spinal muscular atrophy. She is working on developing treatments for rare ... "Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects". The ...
... including IPEX syndrome, Wolcott-Rallison syndrome, and Wolfram syndrome. Symptoms vary widely based on the syndrome. People ... Syndromic neonatal diabetes is the term for diabetes as just one component of any of several complex syndromes that affect ... Some variations in immune gene FOXP3 can cause IPEX syndrome, a severe and multifaceted disease that includes neonatal diabetes ...
... and supports families who have children with the rare genetic condition Wolfram syndrome. The charity was founded in 1977 with ...
McLeod neuroacanthocytosis syndrome Pendred syndrome Usher syndrome type 1 and 2 Wolfram syndrome X-linked spinocerebellar ... Mohr-Tranebjærg syndrome (MTS) is a rare X-linked recessive syndrome also known as deafness-dystonia syndrome and caused by ... MOHR-TRANEBJAERG SYNDROME; MTS". OMIM - Online Mendelian Inheritance in Man. Retrieved 2021-04-26. "Mohr-Tranebjaerg syndrome ... Mohr-Tranebjᴂrg syndrome (MTS) prevalence is unknown. More than 90 cases (in 37 families) are known, but not all cases have ...
In strip #718 it was revealed that she was born with Wolfram syndrome, which means she has a lifespan of about 30 years, giving ...
Smith-Lemli-Opitz syndrome MeSH C16.131.077.938 - Waardenburg syndrome MeSH C16.131.077.951 - Wolfram syndrome MeSH C16.131. ... MeSH C16.131.077.065 - Alagille syndrome MeSH C16.131.077.095 - Angelman syndrome MeSH C16.131.077.112 - Bardet-Biedl syndrome ... Wolfram syndrome MeSH C16.320.400.700 - Rett syndrome MeSH C16.320.400.765 - spinal muscular atrophies of childhood MeSH ... branchio-oto-renal syndrome MeSH C16.131.260.190 - cri du chat syndrome MeSH C16.131.260.210 - De Lange syndrome MeSH C16.131. ...
... tumor Wobble Wolfram syndrome X chromosome X hyperactivation X linkage X linked X-and-Y linkage X-inactivation X:A ratio ... Junk DNA Kappa particle Kartagener's syndrome Karyokinesis Karyotype Kilobase Kin selection Kinetochore Klinefelter syndrome ... Ala Alagille syndrome Albino Alcoholism Alkylating agent Allele Allele frequency Alleles Allopolyploid Allosteric protein ... Leader transcript Leading strand Leaky mutant Lesion Lethal gene Leu Leucine zipper Leukemia Li-Fraumeni syndrome Library ( ...
Wolfram syndrome - WWE protein domain - XPC-binding - XPG I protein domain - Xyloglucan endo-transglycosylase - YAC (yeast ... Fragile X syndrome - frameshift mutation - fructose 5-dehydrogenase - fucoidanase - fungal fruit body lectin family - fusion ... Alagille syndrome - alkaline lysis - allele - amino acids - amino terminus - amp resistance - amplification - amplicon - anchor ... syndrome - T7 RNA polymerase - taq polymerase - TATA box - taurochenodeoxycholate 6α-hydroxylase - taxadiene 5alpha-hydroxylase ...
... digeorge syndrome MeSH C19.700.159.750 - diabetes insipidus, neurogenic MeSH C19.700.159.875 - wolfram syndrome MeSH C19.700. ... wolfram syndrome MeSH C19.246.300.500 - diabetes mellitus, lipoatrophic MeSH C19.344.078.265 - adrenal cortex neoplasms MeSH ... Kallmann syndrome MeSH C19.391.482.629 - Klinefelter syndrome MeSH C19.391.482.814 - sexual infantilism MeSH C19.391.630.050 - ... cushing syndrome MeSH C19.053.800.604 - hyperaldosteronism MeSH C19.053.800.604.249 - bartter syndrome MeSH C19.246.099.500 - ...
... wolfram syndrome MeSH C11.640.513 - optic disk drusen MeSH C11.640.530 - optic nerve injuries MeSH C11.640.544 - optic nerve ... Wolfram syndrome MeSH C11.270.660 - retinal dysplasia MeSH C11.270.684 - retinitis pigmentosa MeSH C11.270.684.500 - Usher ... horner syndrome MeSH C11.710.570 - mydriasis MeSH C11.710.800 - tonic pupil MeSH C11.710.800.180 - aide syndrome MeSH C11.744. ... Hermansky-Pudlak syndrome MeSH C11.270.060 - aniridia MeSH C11.270.060.950 - WAGR syndrome MeSH C11.270.142 - choroideremia ...
... wolfram syndrome MeSH C18.452.394.750.149 - diabetes mellitus, type 2 MeSH C18.452.394.750.149.500 - diabetes mellitus, ... 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. ... Li-Fraumeni syndrome MeSH C18.452.284.600 - Nijmegen breakage syndrome MeSH C18.452.284.760 - Rothmund-Thomson syndrome MeSH ...
... wolfram syndrome MeSH C12.777.419.192 - diabetic nephropathies MeSH C12.777.419.250 - fanconi syndrome MeSH C12.777.419.291 - ... denys-drash syndrome MeSH C12.740.700.842.425 - kallmann syndrome MeSH C12.740.700.842.454 - klinefelter syndrome MeSH C12.740. ... denys-drash syndrome MeSH C12.740.800.820.750.585.950 - wagr syndrome MeSH C12.740.800.820.750.790 - nephroma, mesoblastic MeSH ... denys-drash syndrome MeSH C12.777.419.473.585.950 - wagr syndrome MeSH C12.777.419.473.790 - nephroma, mesoblastic MeSH C12.777 ...
... syndrome SADDAN Tetrahydrobiopterin deficiency Thanatophoric dysplasia Type 1 Type 2 Wolfram syndrome Wolf-Hirschhorn syndrome ... Wolfram syndrome 1 (wolframin) ZGRF1: zinc-finger GRF-type containing 1 ZNF621: encoding protein Zinc finger protein 621 The ... syndrome Chronic lymphocytic leukemia Congenital central hypoventilation syndrome Ellis-Van Creveld syndrome ... Ellis-Van Creveld syndrome EVC2: Ellis-Van Creveld syndrome 2 (limbin) Factor XI: Mutations cause Haemophilia C FAM114A1: ...
... syndrome Withering abalone syndrome Wobbly hedgehog syndrome Wolcott-Rallison syndrome Wolff-Parkinson-White syndrome Wolfram ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
... induced hypotension and vascular leak syndrome. J Immunother 34:419-27, 2011. Eroglu Z, Kong M, Jakowatz JG, Akerly W, ... Wolfram Samlowski, MD - Las Vegas, NV , Oncology on Doximity". "Formulations of lymphokines and method of use thereof for local ... Wolfram Samlowski (born August 16, 1954) is an American medical oncologist with Comprehensive Cancer Centers of Nevada (CCCN) ... KLAS-TV Las Vegas, November 15, 2011 "Wolfram Samlowski, MD, FACP - Comprehensive Cancer Centers of Nevada". www.cccnevada.com ...
These syndromes are Cleidocranial dyspalsia, Osteoporosis, Rutherford syndrome, GAPO syndrome and Osteoglophonic dysplasia. ... Decker, Eva; Stellzig-Eisenhauer, Angelika; Fiebig, Britta S.; Rau, Christiane; Kress, Wolfram; Saar, Kathrin; Rüschendorf, ... There have been many syndromes which have been identified to be related to failure of eruption of teeth. ...
PRKAG2 Wolfram syndrome 2; 604928; CISD2 Wolfram syndrome; 222300; WFS1 Wolfram-like syndrome, autosomal dominant; 222300; WFS1 ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
... and discovered and delineated Smith-Lemli-Opitz syndrome, Opitz-Kaveggia syndrome, Opitz G/BBB syndrome, Bohring-Opitz syndrome ... chair of the science committee of the American Academy of Neurology Wolfram Samlowski - oncologist; former director of the ... pediatrician who described Sanfilippo syndrome Ellis Reynolds Shipp - one of the first female doctors in Utah Braden Barty - ...
"wolfram syndrome research Fumi Urano". Unravel Wolfram Syndrome. Retrieved 2 November 2018. "Wolfram syndrome". ghr.nlm.nih.gov ... Two genetic forms have been described: Wolfram syndrome 1 (WFS1), and Wolfram syndrome 2 (WFS2). The WFS1 or wolframin gene ... "Clinical Trials". Wolfram Syndrome International Registry. 5 October 2016. Retrieved 2 November 2018. "Wolfram syndrome - ... thus slowing progression of Wolfram syndrome.[citation needed] A three tiered approach toward the treatment of Wolfram syndrome ...
Wolfram syndrome is a condition that primarily causes diabetes and vision loss. Explore symptoms, inheritance, genetics of this ... Wolfram syndrome is a condition that affects many of the bodys systems. The hallmark features of Wolfram syndrome are high ... People with Wolfram syndrome type 2 do not develop diabetes insipidus.. Historically, Wolfram syndrome was fatal by mid- ... Rigoli L, Di Bella C. Wolfram syndrome 1 and Wolfram syndrome 2. Curr Opin Pediatr. 2012 Aug;24(4):512-7. doi: 10.1097/MOP. ...
Wolfram Syndrome (WFS) is a rare autosomal recessive disease characterized by insulin-dependent diabetes mellitus, optic nerve ...
This report represents the first case of undiagnosed Wolfram syndrome in a patient over 53 years old. CASE REPORT: A 53-year- ... Wolfram syndrome (WS) is a rare, autosomic recessive genetic disorder. The mortality rate of WS is about 65% before 35 years of ... Keywords: Wolfram Syndrome - complications, Wolfram Syndrome - diagnosis, Wolfram Syndrome - genetics, Pneumonia - etiology, ... Wolfram syndrome. How much could knowledge challenge the fate? A case report. Lea Paola Fabbri, Maria Nucera, Antonello Grippo ...
Mutation analysis of wolfram syndrome patients and functional study of the Wolframin protein ... Prince, Samantha (2013). Mutation analysis of wolfram syndrome patients and functional study of the Wolframin protein. ... Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited ...
Welcome to the Wolfram Syndrome UK Website. Welcome, you have found the site for Wolfram Syndrome UK (WSUK); the only charity ... This page is for medical professionals caring for a person affected by Wolfram Syndrome or a newly diagnosed child/adult ... Make a difference to the individuals living with Wolfram Syndrome by supporting the clinical research & getting involved at our ... Our aim is to raise as much awareness of this syndrome as we can.. ...
Wolfram syndrome is a rare, inherited condition that usually appears in childhood. The first symptoms include diabetes and ... Wolfram Syndrome. What is Wolfram syndrome?. Wolfram syndrome is a rare genetic disease. Its a progressive, neurodegenerative ... You cant prevent genetic conditions such as Wolfram syndrome.. Is Wolfram syndrome fatal?. People with Wolfram syndrome have a ... How is Wolfram syndrome inherited?. To pass on Wolfram syndrome, usually both biological parents must carry the same gene ...
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Since our start we have been the driving force for Wolfram Syndrome research around the world. ... They are unique within the Wolfram field!. Proud of the progress in research during the last years and the perseverance of our ... Their rats are in our opinion the most reliable animal model available within the wolfram research environment. If co-funding ...
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Association du syndrome de Wolfram (ASW) , Endo-ERN, European Reference Network on Rare Endocrine Conditions. Endo-ERNs ... Association du syndrome de Wolfram (ASW) Grand-Champ. France. Website of Patient Organisation [email protected]. ... Association du syndrome de Wolfram (ASW) is participating in the following Main Thematic Groups (MTGs): ...
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"Functional and therapeutic insights into Wolfram syndrome pathophysiology" May 3, 2019 ...
To evaluate differences in macular and optic disc circulation in patients affected by Wolfram Syndrome (WS) employing optical ... PrevPreviousWolfram Syndrome 1 in Two Brothers Treated with Insulin Pump ... Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study. ...
Has there been any research into a cure for Wolframs syndrome? I have two cousins who have it. Are their siblings at risk for ... She has a hearing loss and may have Wolframs Syndrome. What is her life expectancy? Will she get the optic atrophy? Are there ... A friend was recently diagnosed with type 1. His mother and aunt both died of Wolframs syndrome. Even though his father is not ... My son had a DNA test which showed he has the Wolfram gene but only in one gene not both, and the doctor asked about his ...
Wolfram syndrome. Wolfram syndrome is a rare genetic disorder that includes four presenting features: diabetes insipidus (a ... Alström syndrome. Alström Syndrome is a rare, genetically inherited syndrome, characterized by common findings. One finding is ...
AD for Waardenburg syndrome and Gernet syndrome, AR for Jervell Lange-Nielson syndrome and Winter syndrome, X-linked for Alport ... syndrome and Rosenberg syndrome). Others are sporadic (eg, cat-eye syndrome, Turner syndrome, Klinefelter syndrome). ... For many of these syndromes, good data about actual prevalences are difficult to find. The first few syndromes listed for each ... Physical findings usually help indicate the presence of a particular syndrome; however, children with some syndromes do not ...
Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune ... Williams syndrome (WS) (Williams et al. 1961; Beurenet al. 1962) is a multisystem disorder characterized by mental retardation ...
Wolfram Syndrome (Orphan). Orphan designation for treatment of Wolfram Syndrome. Sponsor. *Washington University in St. Louis; ... Neuroleptic Malignant Syndrome (Off-label). 25 mg/day IV; gradually increase to 150 mg/day ...
Wolfram Syndrome (Orphan). Orphan designation for treatment of Wolfram Syndrome. Sponsor. *Washington University in St. Louis; ... Neuroleptic Malignant Syndrome (Off-label). 25 mg/day IV; gradually increase to 150 mg/day ...
Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India. Presentation and clinical course of Wolfram ( ... The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new ... Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood ... Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a ...
Wolfram syndrome: new pathophysiological insights and therapeutic strategies. Mishra R, Chen BS, Richa P, Yu-Wai-Man P. Mishra ... Longitudinal Assessment of Neuroradiologic Features in Wolfram Syndrome. Samara A, Lugar HM, Hershey T, Shimony JS. Samara A, ... Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation. Panfili E, Mondanelli G, ...
Wolfram syndrome.A phase II valproic acid trial began at the end of 2021. Find out more. ... Crigler-Najjar syndrome.A phase I/II gene therapy trial with an AAV vector carrying a normal copy of the relevant gene is ... Fanconi syndrome. This phase I/II gene therapy trial involves restoring the activity of the Fanc-A gene (65% of patients) via ... Wiskott-Aldrich syndrome.A phase I/II gene therapy trial treated 10 patients by ex-vivo gene transfer using a lentiviral vector ...
PGD allowed her to have a baby boy named Matthew, who is now 2 years old and does not have Wolfram Syndrome. She is happy with ... Her first child, Ellie, was born with a rare genetic disorder called Wolfram Syndrome. ... LINK: For more information on Wolfram Syndrome. ...
Wolfram Syndrome UK WS Family Conference. Whittlebury Hall Hotel & Spa. Whittlebury. Towcester. NN12 8QH. Saturday 6th October ...
Mutations associated with Wolfram syndrome: alternative signaling pathways for calcium and mitochondrial physiology. Doba ... CARDIOvascular protection mediated by α1AMPK against metabolic syndrome-mediated ENdothelial Dysfunction - identifying new risk ...
... an iron sulfur cluster binding protein implicated in the pathogenesis of the neurodegenerative disorder Wolfram Syndrome type 2 ... scientists uncovered the molecular mechanisms involved in the pathogenesis of the neurodegenerative disorder Wolfram Syndrome ...
And although the connection with Wolfram syndrome is indirect, if I had not become interested in the S1R as a result of Wolfram ... The wolframin protein helps regulate this process, so cells wont die unnecessarily; but in Wolfram syndrome, the ER stress ... such as Wolfram syndrome.. Angela M. Reiersen is an associate professor of psychiatry at Washington University School of ... a colleague supervising an annual multidisciplinary research clinic studying Wolfram syndrome in children, adolescents, and ...
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum. de Muijnck C, ...
POEMS syndrome, Hirata syndrome, Kearns-Sayre syndrome and Wolfram syndromes.[2][3][4][5][6] ... Rigoli L, Di Bella C (2012). "Wolfram syndrome 1 and Wolfram syndrome 2". Curr. Opin. Pediatr. 24 (4): 512-7. doi:10.1097/MOP. ... Wolfram syndrome - + - Diabetes insipidus. Optic atrophy. Deafness. POEMS syndrome - + - Polyneuropathy. Hypogonadism. Plasma ... Turner syndrome,. Downs syndrome) - + + Cardiac dysfunction Kearns-Sayre syndrome - + - Myopathy. Hypoparathyroidism. ...
  • Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration. (wikipedia.org)
  • citation needed] Mutations in the WFS1 gene cause Wolfram syndrome, which is also known by the acronym DIDMOAD. (wikipedia.org)
  • An outdated name for Wolfram syndrome is DIDMOAD. (health-lib.com)
  • Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India. (bvsalud.org)
  • Wolfram syndrome , also known as DIDMOAD , is a relatively rare inherited neurodegenerative disorder , first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy , followed by diabetes insipidus and deafness . (bvsalud.org)
  • The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India . (bvsalud.org)
  • The argument for a genetic factor is supported be a very rare syndrome known as Wolfram syndrome (DIDMOAD). (endocrinesurgeon.co.uk)
  • Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterised by juvenile-onset nonautoimmune diabetes mellitus and optic atrophy. (bham.ac.uk)
  • Recent study at IMBB, published in Cell Death and Disease revealed that CISD-1, an iron sulfur cluster binding protein implicated in the pathogenesis of the neurodegenerative disorder Wolfram Syndrome type 2, modulates longevity and proteostasis by engaging autophagy and the mitochondrial intrinsic apoptosis pathway. (forth.gr)
  • Approximately 70 percent of people with Wolfram syndrome have diabetes insipidus. (medlineplus.gov)
  • About 65 percent of people with Wolfram syndrome have sensorineural deafness that can range in severity from deafness beginning at birth to mild hearing loss beginning in adolescence that worsens over time. (medlineplus.gov)
  • Sixty to 90 percent of people with Wolfram syndrome have a urinary tract problem. (medlineplus.gov)
  • About 60 percent of people with Wolfram syndrome develop a neurological or psychiatric disorder, most commonly problems with balance and coordination (ataxia), typically beginning in early adulthood. (medlineplus.gov)
  • Other neurological problems experienced by people with Wolfram syndrome include irregular breathing caused by the brain's inability to control breathing (central apnea), loss of the sense of smell (anosmia), loss of the gag reflex, muscle spasms (myoclonus), seizures, reduced sensation in the lower extremities (peripheral neuropathy), and intellectual impairment. (medlineplus.gov)
  • People with Wolfram syndrome type 2 do not develop diabetes insipidus. (medlineplus.gov)
  • People with Wolfram syndrome have changes (mutations) in their genes. (health-lib.com)
  • People with Wolfram syndrome type 2 usually don't have diabetes insipidus or psychiatric conditions. (health-lib.com)
  • Two genetic forms have been described: Wolfram syndrome 1 (WFS1), and Wolfram syndrome 2 (WFS2). (wikipedia.org)
  • Researchers have identified more than 100 WFS1 mutations that cause Wolfram syndrome. (wikipedia.org)
  • It is unclear how WFS1 mutations lead to other features of Wolfram syndrome. (wikipedia.org)
  • Variants (also known as mutations) in the WFS1 gene cause more than 90 percent of Wolfram syndrome type 1 cases. (medlineplus.gov)
  • Wolfram syndrome type 1 is the result of a mutation of the WFS1 gene. (health-lib.com)
  • Wolfram syndrome occurs when biological parents pass on changes (mutations) in the WFS1 or WFS2 (CISD2) genes to their children. (health-lib.com)
  • Psychiatric disorders associated with Wolfram syndrome include psychosis, episodes of severe depression , and impulsive and aggressive behavior. (medlineplus.gov)
  • BY ANGELA M. REIERSEN, M.D. S everal years ago, a colleague supervising an annual multidisciplinary research clinic studying Wolfram syndrome in children, adolescents, and young adults asked me to use my experience as a child and adolescent psychiatrist to perform neurological and psychiatric assessments of the study participants. (flippingbook.com)
  • the same overdrive immune response seen in those mice was a central feature observed in children who had come under her care because they had a rare genetic disorder-Wolfram syndrome-that led to psychiatric symptoms. (scientificamerican.com)
  • and deafness (D). This syndrome can sometimes cause diabetes insipidus (DI), a condition in which the kidneys cannot conserve water. (wikipedia.org)
  • Diabetes mellitus is typically the first symptom of Wolfram syndrome, usually diagnosed around age 6. (medlineplus.gov)
  • Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. (medlineplus.gov)
  • Historically, Wolfram syndrome was fatal by mid-adulthood due to complications from the many features of the condition, such as health problems related to diabetes mellitus or neurological problems. (medlineplus.gov)
  • Wolfram syndrome-related diabetes is similar to Type 1 diabetes, but it's not an autoimmune disease. (health-lib.com)
  • Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. (bvsalud.org)
  • Subjects with juvenile-onset non- autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. (bvsalud.org)
  • Wolfram syndrome is a terminal form of diabetes that results in the degradation of the nerve cells in the eyes, ears and brain, and in 60% of the cases, causes death before the patient's 30th birthday. (catchadream.org)
  • In Wolfram syndrome, diabetes insipidus is associated with diabetes mellitus type 1, atrophy of the optic nerves and deafness. (endocrinesurgeon.co.uk)
  • Wolfram syndrome was initially thought to be caused by mitochondrial dysfunction due to its symptoms and several reports of mitochondrial mutations. (wikipedia.org)
  • Medullary thyroid carcinoma (MTC) occurs both sporadically and in the autosomal dominantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes. (bepress.com)
  • To evaluate differences in macular and optic disc circulation in patients affected by Wolfram Syndrome (WS) employing optical coherence tomography-angiography (OCTA) imaging. (opticnervenetwork.com)
  • The morphologic features of the peripheral blood and bone marrow are currently the gold standard for the diagnosis of myelodysplastic syndrome (MDS). (medscape.com)
  • It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D. The disease affects the central nervous system (especially the brainstem). (wikipedia.org)
  • Wolfram syndrome is a rare genetic disease. (health-lib.com)
  • To pass on Wolfram syndrome, usually both biological parents must carry the same gene mutation. (health-lib.com)
  • But in some cases, a person can inherit Wolfram syndrome type 1 when only one parent has the mutation. (health-lib.com)
  • In addition to the usual features of Wolfram syndrome type 1 (described above), individuals with Wolfram syndrome type 2 have stomach or intestinal ulcers and excessive bleeding after an injury. (medlineplus.gov)
  • The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide. (medlineplus.gov)
  • Rossignol AM, Bonnlander H. Prevalence and severity of the premenstrual syndrome. (medscape.com)
  • Wolfram syndrome is a condition that affects many of the body's systems. (medlineplus.gov)
  • One study estimated that Wolfram syndrome affects 1 in 770,000 people in the United Kingdom. (health-lib.com)
  • However, it has now been established that Wolfram syndrome is caused by endoplasmic reticulum dysfunction. (wikipedia.org)
  • Turner syndrome must be differentiated from other similar conditions which lead to multiple endocrine disorders such as autoimmune polyendocrine syndrome , POEMS syndrome , Hirata syndrome, Kearns-Sayre syndrome and Wolfram syndromes . (wikidoc.org)
  • Myelodysplastic syndromes (MDS), as defined by the World Health Organization (WHO), represent clonal hematopoietic stem cell disorders resulting in ineffective hematopoiesis. (medscape.com)
  • Wolfram syndrome: new pathophysiological insights and therapeutic strategies. (nih.gov)
  • BACKGROUND: Wolfram syndrome (WS) is a rare, autosomic recessive genetic disorder. (medscimonit.com)
  • Her first child, Ellie, was born with a rare genetic disorder called Wolfram Syndrome. (kdvr.com)
  • Wolfram syndrome is a rare, inherited condition that usually appears in childhood. (health-lib.com)
  • Because Wolfram syndrome is so rare, healthcare providers don't know exactly how often it occurs. (health-lib.com)
  • Wolfram syndrome type 2 is extremely rare. (health-lib.com)
  • European Reference Network on Rare Endocrine Conditions mission is to reduce and ultimately abolish inequalities in care for patients with rare endocrine conditions in Europe, through facilitating knowledge sharing and facilitating related healthcare en research. (endo-ern.eu)
  • Ring chromosome 20 syndrome is a rare. (rarebeacon.org)
  • Turner's syndrome must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as constitutional delay of puberty , hypopituitarism , delayed puberty , and chromosomal abnormalities . (wikidoc.org)
  • Only a few families from Jordan have been found to have Wolfram syndrome type 2. (medlineplus.gov)
  • What are the four most common features of Wolfram syndrome type 1? (health-lib.com)
  • Symptoms of Wolfram syndrome type 1 may vary from person to person. (health-lib.com)
  • What are the other symptoms of Wolfram syndrome type 1? (health-lib.com)
  • If you want to type 'cell phone' and see all the data out there well organized, wolfram alpha is supposed to solve this. (wordnik.com)
  • As a carer of a son diagnosed with ring 20 syndrome, Allison Watson increasingly felt the need for a patient group that would provide support and advice to help families and patients cope with the condition. (rarebeacon.org)
  • Syndrome of Inappropriate ADH Secretion (SIADH) The syndrome of inappropriate ADH (vasopressin) secretion is defined as less than maximally dilute urine in the presence of serum hypo-osmolality, in patients with normal adrenal, thyroid, renal. (msdmanuals.com)
  • MDS, which is uncommon in the pediatric population, is most often associated with inheritable genetic syndromes and rarely presents as RARS. (medscape.com)
  • The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations . (bvsalud.org)
  • Before the availability of genetic screening, NDM was classified based on the clinical course of transient NDM (TNDM), permanent NDM (PNDM), or a specific syndrome. (pfmjournal.org)
  • Clinical features of the syndrome are nonspecific (eg, fatigue) and can be attributed to anemia associated with ineffective erythropoiesis. (medscape.com)
  • Early life emotional, physical, and sexual abuse and the development of premenstrual syndrome: a longitudinal study. (medscape.com)
  • Premenstrual syndrome (PMS) is a recurrent luteal-phase condition characterized by physical, psychological, and behavioral changes of sufficient severity to result in deterioration of interpersonal relationships and normal activity. (medscape.com)
  • Evaluating the effect of magnesium and magnesium plus vitamin B6 supplement on the severity of premenstrual syndrome. (medscape.com)
  • There are two types of Wolfram syndrome with many overlapping features. (medlineplus.gov)
  • The epidemiologic features of refractory anemia with ring sideroblasts (RARS) are similar to those of most other types of myelodysplastic syndrome (MDS). (medscape.com)
  • Not a primary source like wolfram , but it's more flexible and will give you structure, which a simple search lacks. (wordnik.com)
  • Their rats are in our opinion the most reliable animal model available within the wolfram research environment. (eyehopefoundation.org)
  • Since our start we have been the driving force for Wolfram Syndrome research around the world. (eyehopefoundation.org)
  • Has there been any research into a cure for Wolfram's syndrome? (childrenwithdiabetes.com)
  • And although the connection with Wolfram syndrome is indirect, if I had not become interested in the S1R as a result of Wolfram syndrome research, I might never have thought to use fluvoxamine as a treatment for Covid-19. (flippingbook.com)
  • Founded in 2010, The Snowman Fund 's mission is to raise awareness of and funding for research that one day will stop the progression of Wolfram syndrome. (catchadream.org)
  • Help support Wordnik (and make this page ad-free) by adopting the word wolfram . (wordnik.com)