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 MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR Analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.. |
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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 |
Presented at 13 years of age with mild action myoclonus, mitochondrial myopathy, and mild proximal muscle weakness; patient has an A to G transition mutation at nucleotide pair 8344 of mtDNA which results in a mutant tRNA-Lys/wt |
| Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023 |
| PubMed ID: 38524212 |
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| Dames S, Chou LS, Xiao Y, Wayman T, Stocks J, Singleton M, Eilbeck K, Mao R, The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders The Journal of molecular diagnostics : JMD5:63-71 2013 |
| PubMed ID: 23665194 |
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| 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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