Back to Search
Start Over
Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
- Source :
-
European journal of human genetics : EJHG [Eur J Hum Genet] 2002 Feb; Vol. 10 (2), pp. 141-4. - Publication Year :
- 2002
-
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.
Details
- Language :
- English
- ISSN :
- 1018-4813
- Volume :
- 10
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- European journal of human genetics : EJHG
- Publication Type :
- Academic Journal
- Accession number :
- 11938446
- Full Text :
- https://doi.org/10.1038/sj.ejhg.5200773