ePrints

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

Lookup NU author(s): Emeritus Professor Doug Turnbull, Professor Robert Taylor

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

Abstract

Pathogenic point mutations in the mitochondrial MTND1 gene have previously been described in association with two distinct clinical phenotypes - Leber hereditary optic neuropathy (LHON) and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Here we report the first heteroplasmic mitochondrial DNA (mtDNA) point mutation (3376G > A) in the MTND1 gene associated with an overlap syndrome comprising the clinical features of both LHON and MELAS. Muscle histochemistry revealed subtle mitochondrial abnormalities, while biochemical analysis showed an isolated complex I deficiency. Our findings serve to highlight the growing importance of mutations in mitochondrial complex I structural genes in MELAS and its associated overlap syndromes. © 2005 Nature Publishing Group All rights reserved.

Publication metadata

Author(s): Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2005

Volume: 13

Issue: 5

Pages: 623-627

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/sj.ejhg.5201363

DOI: 10.1038/sj.ejhg.5201363

PubMed id: 15657614

Altmetrics

Funding

Share