Lookup NU author(s): Professor Robert Taylor,
Dr Andrew Morris,
Dr Michael Hutchinson,
Professor Doug Turnbull
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
Leigh disease is a genetically heterogeneous, neurodegenerative disorder of childhood that is caused by defects of either the nuclear or mitochondrial genome. Here, we report the molecular genetic findings in a patient with neuropathological hallmarks of Leigh disease and complex I deficiency. Direct sequencing of the seven mitochondrial DNA (mtDNA)-encoded complex I (ND) genes revealed a novel missense mutation (T12706C) in the mitochondrial ND5 gene. The mutation is predicted to change an invariant amino acid in a highly conserved transmembrane helix of the mature polypeptide and was heteroplasmic in both skeletal muscle and cultured skin fibroblasts. The association of the T12706C ND5 mutation with a specific biochemical defect involving complex I is highly suggestive of a pathogenic role for this mutation.
Author(s): Taylor RW; Morris AAM; Hutchinson M; Turnbull DM
Publication type: Article
Publication status: Published
Journal: European Journal of Human Genetics
Print publication date: 01/01/2002
ISSN (print): 1018-4813
ISSN (electronic): 1476-5438
Publisher: Nature Publishing Group
PubMed id: 11938446
Altmetrics provided by Altmetric