Novel heteroplasmic mutation in the anticodon stem of mitochondrial tRNALys associated with dystonia and stroke-like episodes

A. Gal, K. Pentelenyi, V. Remenyi, Z. Pal, B. Csanyi, G. Tomory, I. Rasko, M. J. Molnar

Research output: Contribution to journalArticle

7 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)252-256
Number of pages5
JournalActa Neurologica Scandinavica
Issue number4
Publication statusPublished - Oct 1 2010


  • A8332G
  • anticodon stem mutation
  • dystonia
  • lactic acidosis
  • stroke-like episode
  • tRNA

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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