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Genetics

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Friedreich's ataxia (FRDA), in almost all cases is caused by a mutation in FXN (previously called X25 and FRDA).

  • in majority of FRDA cases (about 96%), there is homozygosity for a pathological expansion of a GAA trinucleotide repeat in intron one of FXN while in the other 4%, there is compound heterozygosity for an intron one GAA repeat expansion in one allele and a point mutation or deletion in the other (1)

The gene FXN codes for the protein frataxin.

  • GAA expansion results in a reduction of frataxin
    • frataxin is a mitochondrial membrane protein involved in iron sulfur protein production, storage and transport

The Friedreich's ataxia mutation results in iron overload in mitochondria and neuronal death.

Reference:

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