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

Nature Genetics volume 16, pages 352–357 (1997)Cite this article

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 alleies 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 DMA. 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.

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Authors and Affiliations

  1. Departments of Pathology and Laboratory Medicine and University of Pennsylvania, Philadelphia, Pennsylvania, 19104, USA

    Robert B. Wilson

  2. Departments of Physiology, University of Pennsylvania, Philadelphia, Pennsylvania, 19104, USA

    David M. Roof

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  1. Robert B. Wilson
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  2. David M. Roof
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Correspondence to Robert B. Wilson.

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Wilson, R., Roof, D. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 16, 352–357 (1997). https://doi.org/10.1038/ng0897-352

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