Description:
MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERFF
TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Mitochondrial Genome |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
MTTK |
| Chromosomal Location |
NA |
| Allelic Variant 1 |
590060.0001; MERRF SYNDROME |
| Identified Mutation |
8344A>G; G8344; MTTK*MERRF8344; In patients with MERRF Syndrome (545000), Shoffner et al [Cell 61: 931(1990)] and Yoneda et al. [Biochem. Int. 21: 789 (1990)] identified an A-to-G transition at nucleotide 8344 that altered a conserved nucleotide in the tRNA(lys) gene (MTTK) and was heteroplasmic. The mutation was found in 3 independent pedigrees with the disease, while 65 controls did not have the mutation. This mutation accounts for 80-90% of MERRF cases. |
| Remarks |
Onset of spont myoclonic jerking in midteens; progressed over 10 years to debilitating myoclonus, neurosensory hearing loss, dementia, hypoventilation, and mild cardiomyopathy; mutant tRNA-Lys, A>G transition at mtDNA nucleotide pair 8344/wt |
| Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC, Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell61:931-7 1990 |
| PubMed ID: 2112427 |
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| Wallace DC, Zheng XX, Lott MT, Shoffner JM, Hodge JA, Kelley RI, Epstein CM, Hopkins LC, Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell55:601-10 1988 |
| PubMed ID: 3180221 |
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