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

Overview

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.

publication date

  • September 1, 1995

Research

keywords

  • DNA, Mitochondrial
  • MELAS Syndrome
  • Peptides

Identity

Scopus Document Identifier

  • 0029046428

Digital Object Identifier (DOI)

  • 10.1016/0960-8966(94)00079-o

PubMed ID

  • 7496173

Additional Document Info

volume

  • 5

issue

  • 5