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

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 fra...

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Bibliographic Details
Published inNature genetics Vol. 16; no. 4; pp. 352 - 357
Main Authors Wilson, Robert B, Roof, David M
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group 01.08.1997
Subjects
Amino Acid Sequence
Animals
Binding Sites
Biological and medical sciences
Cloning, Molecular
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA, Fungal - genetics
DNA, Mitochondrial - genetics
Frataxin
Friedreich Ataxia - genetics
Gene Deletion
Genetic Complementation Test
Iron-Binding Proteins
Medical sciences
Molecular Sequence Data
Neurology
Phosphotransferases (Alcohol Group Acceptor) - genetics
Phosphotransferases (Alcohol Group Acceptor) - metabolism
Rabbits
Saccharomyces cerevisiae
Saccharomyces cerevisiae - genetics
Saccharomyces cerevisiae - metabolism
Sequence Homology, Amino Acid
Human
Nervous system diseases
Yeast
Pathogenesis
Deficiency
Homology
Mitochondrial DNA
Cerebral disorder
Genetic disease
Fungi
Mitochondria
Central nervous system disease
Genetics
Ascomycetes
Degenerative disease
Friedreich ataxia
Mutation
Localization
Respiration
Spinal cord disease
Saccharomyces cerevisiae
Thallophyta
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Summary: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.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
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ISSN:1061-4036
1546-1718
DOI:10.1038/ng0897-352