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

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

Research output: Contribution to journalArticle

128 Citations (Scopus)

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
Pages (from-to)391-398
Number of pages8
JournalNeuromuscular Disorders
Volume5
Issue number5
DOIs
StatePublished - Jan 1 1995

Fingerprint

MELAS Syndrome
Mitochondrial DNA
Peptides
Mutation
Genes
Mitochondrial Diseases
Electron Transport Complex IV
Missense Mutation
Transfer RNA
Mothers
Phenotype
Amino Acids
Muscles

Keywords

  • COX
  • MELAS
  • mtDNA
  • point mutation

ASJC Scopus subject areas

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

Cite this

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. / Manfredi, G.; Schon, E. A.; Moraes, Carlos T; Bonilla, E.; Berry, G. T.; Sladky, J. T.; Dimauro, S.

In: Neuromuscular Disorders, Vol. 5, No. 5, 01.01.1995, p. 391-398.

Research output: Contribution to journalArticle

Manfredi, G. ; Schon, E. A. ; Moraes, Carlos T ; Bonilla, E. ; Berry, G. T. ; Sladky, J. T. ; Dimauro, S. / A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. In: Neuromuscular Disorders. 1995 ; Vol. 5, No. 5. pp. 391-398.
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