METHOD FOR DETECTING MITOCHONDRIAL COMPLEX III DEFICIENCY PATIENTS OR CARRIERS

摘要

Disclosed is a useful, novel means for the definitive diagnosis of CIII deficiency, the majority of the genetic causes of which are still unknown. This method for detecting mitochondrial complex III deficiency patients or carriers includes investigating whether or not the subject has a mutation in the UQCRC2 gene using a sample isolated from the subject. In this method, a patient is detected when the detected mutation is homozygous or compound heterozygous, and a carrier is detected when the detected mutation is heterozygous. A mutation of the UQCRC2 gene is, for example, a mutation whereby amino acid 183 of the UQCRC2 protein is substituted by Trp.