Abstract
Friedreich ataxia is an inherited neurodegenerative disease caused by frataxin deficiency. Frataxin is a conserved mitochondrial protein that plays a role in FeS cluster assembly in mitochondria. FeS clusters are modular cofactors that perform essential functions throughout the cell. They are synthesized by a multistep and multisubunit mitochondrial machinery that includes the scaffold protein Isu for assembling a protein-bound FeS cluster intermediate. Frataxin interacts with Isu, iron, and the cysteine desulfurase Nfs1, which supplies sulfide, thus placing it at the center of mitochondrial FeS cluster biosynthesis.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Carbon-Sulfur Lyases / genetics
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Carbon-Sulfur Lyases / metabolism
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Frataxin
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Friedreich Ataxia / genetics
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Friedreich Ataxia / metabolism
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Humans
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Iron / metabolism*
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Iron-Binding Proteins / genetics
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Iron-Binding Proteins / metabolism*
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Iron-Sulfur Proteins / genetics
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Iron-Sulfur Proteins / metabolism*
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Mitochondria / genetics
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Mitochondria / metabolism*
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Mitochondrial Proteins / genetics
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Mitochondrial Proteins / metabolism*
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Sulfides / metabolism*
Substances
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Iron-Binding Proteins
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Iron-Sulfur Proteins
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Mitochondrial Proteins
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Sulfides
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Iron
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Carbon-Sulfur Lyases
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NFS1 protein, human