| Autor: |
A, Gal, K, Pentelenyi, V, Remenyi, Z, Pal, B, Csanyi, G, Tomory, I, Rasko, M J, Molnar |
| Rok vydání: |
2009 |
| Předmět: |
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| Zdroj: |
Acta neurologica Scandinavica. 122(4) |
| ISSN: |
1600-0404 |
| Popis: |
We report a novel heteroplasmic mitochondrial tRNA(Lys) mutation associated with dystonia, stroke-like episodes, sensorineural hearing loss and epilepsy in a Hungarian family.A 16-year-old boy, his brother and mother were investigated. Thorough clinical investigation as well as electrophysiological, neuroradiological and myopathological examinations were performed. Molecular studies included the analysis of the DYT1, DDP1/TIMM8A (deafness-dystonia peptid-1) genes and mitochondrial DNA (mtDNA).The mtDNA analysis of the proband revealed a heteroplasmic A8332G substitution in the anticodon stem of the tRNA(Lys) gene. The mutation segregated in all affected family members. Besides this mutation 16 further mtDNA polymorphisms were detected. Complex I activity of the patient's fibroblast cultures showed decreased activity confirming mitochondrial dysfunction.The novel A8332G heteroplasmic mutation is most likely a new cause of dystonia and stroke-like episodes due to mitochondrial encephalopathy. The synergistic effect of the G8697A, A11812G and T10463C single nucleotide polymorphisms may modify the phenotype. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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