The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA

Neuromuscul Disord. 2008 Jul;18(7):553-6. doi: 10.1016/j.nmd.2008.05.002. Epub 2008 Jun 30.

Abstract

While Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is typically associated with mutations in the mitochondrial tRNA(Leu) 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Analysis of Variance
  • Animals
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex I / physiology*
  • Family Health
  • Female
  • Humans
  • MELAS Syndrome / genetics*
  • MELAS Syndrome / pathology
  • Middle Aged
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation*
  • NADH Dehydrogenase / genetics*
  • Statistics, Nonparametric

Substances

  • DNA, Mitochondrial
  • NADH Dehydrogenase
  • NADH dehydrogenase subunit 1, human
  • Electron Transport Complex I