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Mitochondrial iron in Friedreich's ataxia

Jerry Kaplan
From: Science & Medicine: Volume 7 Number 3: Page 8 (June 2000)

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Abstract: A group of neurological disorders is associated with defects in mitochondrial oxidative phosphorylation, and a separate group is caused by a genetic abnormality in which a particular nucleotide triplet is repeated many times more than is normal. The genetics and pathophysiology of Friedreich's ataxia include both elements, but with surprisingly different effects than those seen in other neurodegenerative diseases. Friedereich's ataxia is a paradigm for contemporary molecular medicine, because the responsible gene has an equivalent in other species, in which the effects of inactivating the gene can be investigated.

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