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    Nat Genet. 1997 Aug;16(4):352-7.

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

    Source

    Department of Pathology, University of Pennsylvania, Philadelphia 19104, USA. WilsonR@mail.med.upenn.edu

    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.

    PMID:
    9241271
    [PubMed - indexed for MEDLINE]

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