Brief Genetics Repor: Heterozygous Expansion of the GAA Tract of the X25/frataxin Gene Is Associated With Insulin Resistance in Humans

摘要

friedreich's ataxia (FA) is an autosomal recessive dis- ease that has been attributed to a GAA triplet repeat expansion in the first intron of the X25/frataxin gene. Impaired glucose tolerance is present in up to 39/100 of FA Patients, and clinically apparent diabetes is seen in ～18/100 Of the affected individuals. Subjects carrying the X25/frataxin GAA repeat in a heterozygous state do not Develop FA and, therefore, represent an ideal model to Study the underlying metabolic defects that contribute to The diabetes associated with this disorder.