DIRECT MOLECULAR DIAGNOSIS OF FRIEDREICH ATAXIA

摘要

PROBLEM TO BE SOLVED: To provide a method for diagnosis and therapeutic treatment of Friedreich ataxia (FRDA).;SOLUTION: The FRDA is an autosomal recessive degenerative disease that involves the central and peripheral nervous system and the heart. A gene X25 is identified in the critical region for the FRDA locus on chromosome 9q13. The gene encodes a 210 amino acid protein, flataxin that has homologues in distant species such as C. elegans and yeast. The diagnosis is made by determining X25mRNA, and the treatment is carried out by administering the flataxin.;COPYRIGHT: (C)2010,JPO&INPIT