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Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.

Abstract：

:Friedreich's ataxia is due to loss of function mutations in the gene encoding frataxin (FRDA). Frataxin is a protein of unknown function. In situ hybridization analyses revealed that mouse frataxin expression correlates well with the main site of neurodegeneration, but the expression pattern is broader than expected from the pathology of the disease. Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate, including liver, kidney, brown fat and heart. We found that mouse and yeast frataxin homologues contain a potential mitochondrial targeting sequence in their N-terminal domains and that disruption of the yeast gene results in mitochondrial dysfunction. Finally, tagging experiments demonstrate that human frataxin co-localizes with a mitochondrial protein. Friedreich's ataxia is therefore a mitochondrial disease caused by a mutation in the nuclear genome.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Koutnikova H,Campuzano V,Foury F,Dollé P,Cazzalini O,Koenig M

doi

10.1038/ng0897-345

subject

Has Abstract

pub_date

1997-08-01 00:00:00

pages

345-51

issue

4

eissn

1061-4036

issn

1546-1718

journal_volume

16

pub_type

杂志文章

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