Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS

Biochem Biophys Res Commun. 1997 Sep 18;238(2):326-8. doi: 10.1006/bbrc.1997.7167.


We report a novel G13513A mutation in the mitochondrial ND5 gene in a patient who had morphologically and biochemically abnormal muscle mitochondria and died at age 45 with a diagnosis of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The mutation affects an evolutionarily conserved nucleotide and was heteroplasmic in muscle, leukocytes, and several autopsy tissues, including brain. The mutation was less abundant (<5%) in leukocytes from an asymptomatic sister and was not found in over 100 controls, thus satisfying accepted criteria for pathogenicity. Our report reinforces the concept of genetic heterogeneity in MELAS and confirms that MELAS can be due to mutations in polypeptide-coding mtDNA genes.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • DNA, Mitochondrial / genetics*
  • Humans
  • MELAS Syndrome / genetics*
  • MELAS Syndrome / pathology
  • MELAS Syndrome / physiopathology
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Muscle, Skeletal / pathology
  • Mutation*
  • Sequence Alignment
  • Sequence Homology, Amino Acid


  • DNA, Mitochondrial