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Leigh disease associated with a novel mitochondrial DNA ND5 mutation

Lookup NU author(s): Professor Robert Taylor, Dr Andrew Morris, Dr Michael Hutchinson, Professor Doug Turnbull

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Abstract

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.


Publication metadata

Author(s): Taylor RW; Morris AAM; Hutchinson M; Turnbull DM

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2002

Volume: 10

Issue: 2

Pages: 141-144

Print publication date: 01/01/2002

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/sj/ejhg/5200773

DOI: 10.1038/sj/ejhg/5200773

PubMed id: 11938446


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