A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

G. Manfredi, E. A. Schon, C. T. Moraes, E. Bonilla, G. T. Berry, J. T. Sladky, S. Dimauro

Research output: Contribution to journalArticle

132 Scopus citations

Abstract

We report a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) who harbored a novel missense mutation at mtDNA position 9957 in the gene specifying subunit III of cytochrome c oxidase (COX III). This T→C transition converted Phe-251, a highly conserved amino acid in the C-terminus of the polypeptide, to Leu. The mutation, which was not present in 107 normal controls or in 57 patients with various mitochondrial diseases, was heteroplasmic in both muscle and blood of the proband and in blood from his asymptomatic mother. These results provide evidence that the MELAS clinical phenotype can be due not only to mutations in mtDNA-encoded tRNA genes, but in polypeptide-coding genes as well.

Original languageEnglish (US)
Pages (from-to)391-398
Number of pages8
JournalNeuromuscular Disorders
Volume5
Issue number5
DOIs
StatePublished - Sep 1995

Keywords

  • COX
  • MELAS
  • mtDNA
  • point mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience

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