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

doi:10.1111/j.1600-0404.2009.01297.x

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Wiley InterScience

Acta Neurologica Scandinavica

Early View (Articles online in advance of print)

Published Online: 20 Nov 2009

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

A. Gal ¹ , K. Pentelenyi ¹ , V. Remenyi ¹ , Z. Pal ¹ , B. Csanyi ² , G. Tomory ² , I. Rasko ² , M. J. Molnar ^1,3

¹ Clinical and Research Centre of Molecular Neurology, Semmelweis University, Budapest, Hungary ; ² Biological Research Center, Szeged, Hungary ; ³ Montreal Neurological Institute, McGill University, Montreal, QC, Canada

Correspondence to Maria Judit Molnar, Clinical and Research Centre of Molecular Neurology, Semmelweis University, H-1083 Tomo Str. 25-29, Budapest, Hungary
Tel./Fax: +36 1 459 14 92
e-mail: molnarmj@neur.sote.hu

KEYWORDS

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

Gal A, Pentelenyi K, Remenyi V, Pal Z, Csanyi B, Tomory G, Rasko I, Molnar MJ. Novel heteroplasmic mutation in the anticodon stem of mitochondrial tRNA^Lys associated with dystonia and stroke-like episodes.
Acta Neurol Scand: DOI: 10.1111/j.1600-0404.2009.01297.x.
© 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard.

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.

Accepted for publication October 20, 2009

DIGITAL OBJECT IDENTIFIER (DOI)

10.1111/j.1600-0404.2009.01297.x About DOI