Novel heteroplasmic mutation in the anticodon stem of mitochondrial tRNA(Lys) associated with dystonia and stroke-like episodes.
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| Abstract | OBJECTIVES: We report a novel heteroplasmic mitochondrial tRNA(Lys) mutation associated with dystonia, stroke-like episodes, sensorineural hearing loss and epilepsy in a Hungarian family. MATERIAL AND METHODS: 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). RESULTS: 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. CONCLUSION: 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.
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| Authors | A Gal, K Pentelenyi, V Remenyi, Z Pal, B Csanyi, G Tomory, I Rasko, M J Molnar |
| Journal | Acta neurologica Scandinavica (Acta Neurol Scand) Vol. 122 Issue 4 Pg. 252-6 (Oct 2010) ISSN: 1600-0404 [Electronic] Denmark |
| PMID | 19930207 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't) |
| Copyright | Copyright © 2009 The Authors. Journal compilation © 2009 Blackwell Munksgaard. |
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