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Related Experiment Videos

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

G Manfredi1, E A Schon, C T Moraes

  • 1H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders, New York, USA.

Neuromuscular Disorders : NMD
|September 1, 1995
PubMed
Summary

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Researchers identified a new mitochondrial DNA mutation in the COX III gene causing MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). This finding expands the known genetic causes of MELAS beyond tRNA genes.

Area of Science:

  • Genetics
  • Mitochondrial Biology
  • Neurology

Background:

  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a severe maternally inherited disorder.
  • Mutations in mitochondrial DNA (mtDNA)-encoded tRNA genes are the most common cause of MELAS.
  • The genetic basis for some MELAS cases remains unexplained.

Observation:

  • A patient with MELAS presented with a novel missense mutation (T9957C) in the mtDNA-encoded COX III gene.
  • This mutation altered a conserved phenylalanine residue (Phe-251) to leucine in the cytochrome c oxidase subunit III polypeptide.
  • The mutation was heteroplasmic in the patient's muscle and blood, and also detected in the blood of his asymptomatic mother.

Findings:

  • The identified T9957C mutation in the COX III gene was absent in 107 healthy controls and 57 patients with other mitochondrial diseases.

Related Experiment Videos

  • This novel mutation provides direct evidence linking a defect in a polypeptide-coding mtDNA gene to the MELAS phenotype.
  • Heteroplasmy suggests varying levels of mutant mtDNA contribute to disease severity.

    • Implications:

    • The findings broaden the spectrum of genetic defects associated with MELAS, including mutations in protein-coding genes.
    • This expands diagnostic possibilities for MELAS patients with unknown genetic causes.
    • Understanding mutations in COX III may offer new therapeutic targets for MELAS and related mitochondrial disorders.