RECQL4/RECQL4 VARIANT-P53 COMPLEX FOR ALTERED MITOCHONDRIAL FUNCTION IN ROTHMUND-THOMSON SYNDROME

摘要

The present invention discloses a functional interaction of the p53 with RECQL4/RECQL4 variant. The present invention further discloses co localization of RECQL4/ RECQL4 variant and p53 complex in the mitochondrial nucleoids. The MLS at the N-terminus of RECQL4 that binds to Tom 20 receptor complex and transport RECQL4/RECQL4 variant-p53 complex into the mitochondria has been identified. Further the invention discloses measurement of intracellular ROS, identification of mtDNA mutations as a diagnostic tool for RTS and treatment with ascorbic acid for scavenging ROS and as treatment for RTS.