what is the genetic defect associated with Friedrich's ataxia?

Answer 1

Friedreich ataxia is inherited as an autosomal recessive disorder. It is due to an abnormality in a gene called, frataxin mitochondrial protein, which is located on chromosome 9. .

Answer 2

The genetic defect associated with Friedrich's ataxia is an autosomal and recessive mutation. It is a mutation in gene X25 which encodes frataxin, a protein whose function is not entirely clear but which does localize to the mitochondria. The gene encoding frataxin is found on human chromosome 9. The genetic defect associated with Friedrich's ataxia is found within the intronic sequence which likely results in silencing (and therefore non-expression) of this gene.