HYDROXYACYL-CoA DEHYDROGENASE BETA SUBUNIT MUTANT GENE WHICH CAUSES AN EARLY-ONSET AUTOSOMAL RECESSIVE AXONAL CHARCOT-MARIE-TOOTH DISEASE, AND A METHOD AND A COMPOSITION FOR DIAGNOSING THE DISEASE USING THE SAME

摘要

PURPOSE: A diagnosis using a hydroxyacyl-CoA dehydrogenase beta subunit (HADHB) mutant gene is provided to accurately and early diagnose an autosomal recessive axonal Charcot-Marie-Tooth disease (CMT) through a gene or protein test, to maximize treatment effect, and to enable personalized therapy according to the cause of the disease.;CONSTITUTION: An HADHB mutant gene is a marker for diagnosing an autosomal recessive axonal CMT. In the HADHB mutant gene, exon 5 of HADHB gene is deleted by substitution of 686th base, guanine to thymine, in a base sequence of sequence number 1, and substitution of the last base of an intron 4 base sequence between 209th and 210th bases, guanine to cytosine, in a base sequence of sequence number 2. A composition for diagnosing an early-onset autosomal recessive axonal CMT contains an agent which is able to detect the expression of mRNA of the HADHB mutant gene or the expression of Hadhb mutant protein encoded by the gene. A method for providing necessary information for diagnosing the possibility of developing an early-onset autosomal recessive axonal CMT comprises the steps of: detecting the expression of the mRNA or the protein from an individual sample; and determining high possibility of developing the early-onset autosomal recessive axonal CMT when the mRNA or the protein is expressed in an individual sample.;COPYRIGHT KIPO 2013;[Reference numerals] (AA) Healthy person; (BB) Patient