Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3081427 | Neuromuscular Disorders | 2008 | 4 Pages |
Abstract
While Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is typically associated with mutations in the mitochondrial tRNALeu gene, mutations in complex I subunit genes of the mtDNA have emerged as a second significant cause. Here we report a novel mutation in the mitochondrial complex I subunit gene ND1 in a patient with late-onset MELAS. The 3380G>A mutation shows very good evidence of pathogenicity as it is heteroplasmic, undetectable in controls, alters a highly conserved amino acid, and is more abundant in ragged-red than in normal muscle fibers. These findings support the significant role of complex I mutations in MELAS.
Keywords
Related Topics
Life Sciences
Neuroscience
Developmental Neuroscience
Authors
Rita Horváth, Ralf Reilmann, Elke Holinski-Feder, E. Bernd Ringelstein, Thomas Klopstock,