Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

Nat Genet. 1997 Aug;16(4):352-7. doi: 10.1038/ng0897-352.

Abstract

Friedreich's ataxia (FRDA) is an autosomal recessive degenerative disorder that primarily affects the nervous system and heart. Patients with FRDA have point mutations or trinucleotide repeat expansions in both alleles of FRDA, which encodes a protein termed frataxin. We show that the yeast frataxin homologue, which we have named YFH1, localizes to mitochondria and is required to maintain mitochondrial DNA. The YFH1-homologous domain of frataxin functions in yeast and a disease-associated missense mutation of this domain, or the corresponding domain in YFH1, reduces function. Our data suggest that mitochondrial dysfunction contributes to FRDA pathophysiology.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Binding Sites
  • Cloning, Molecular
  • DNA, Fungal / genetics
  • DNA, Mitochondrial / genetics*
  • Frataxin
  • Friedreich Ataxia / genetics
  • Gene Deletion
  • Genetic Complementation Test
  • Iron-Binding Proteins*
  • Molecular Sequence Data
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Phosphotransferases (Alcohol Group Acceptor) / metabolism*
  • Rabbits
  • Saccharomyces cerevisiae / genetics
  • Saccharomyces cerevisiae / metabolism*
  • Sequence Homology, Amino Acid

Substances

  • DNA, Fungal
  • DNA, Mitochondrial
  • Iron-Binding Proteins
  • Phosphotransferases (Alcohol Group Acceptor)

Associated data

  • GENBANK/Z74168