Autosomal Recessive Disorders Friedreichs Ataxia

Pathogenesis and Pathophysiology. Friedreich's ataxia is an autosomal recessive disease. Recently, a gene, X25, was identified in the centromeric region of chromosome 9q, the critical region for FRDA. X25 encodes a 210-amino acid protein, frataxin, with mitochondrial localization. In normals, high levels of mRNA transcribed from X25 are found in tissues that undergo degeneration in FRDA. A few patients have point mutations in X25, but the majority are homozygous for an unstable intronic GAA repeat expansion. FRDA patients have undetectable or extremely low levels of the mRNA transcribed from X25, suggesting

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