Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

Ann Neurol. 2003 Jan;53(1):128-32. doi: 10.1002/ana.10435.


We identified two novel heteroplasmic mitochondrial DNA point mutations in the gene encoding the ND5 subunit of complex I: a 12770A-->G transition identified in a patient with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and a 13045A-->C transversion in a patient with a MELAS/Leber's hereditary optic neuropathy/Leigh's overlap syndrome. Biochemical analysis of muscle homogenates showed normal or very mildly reduced complex I activity. Histochemistry was normal. Our observations add to the evidence that mitochondrial ND5 protein coding gene mutations frequently associate with the MELAS phenotype, and it highlights the role of complex I dysfunction in MELAS.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Child
  • Electron Transport Complex I / genetics*
  • Humans
  • MELAS Syndrome / genetics*
  • MELAS Syndrome / pathology
  • Magnetic Resonance Imaging
  • Male
  • Molecular Sequence Data
  • Phenotype
  • Point Mutation*


  • Electron Transport Complex I