BINDING ACTIVITY OF AMINOACYL-tRNA SYNTHETASE IN CHARCOT-MARIE-TOOTH (CMT) NEUROPATHY AND CMT-RELATED NEUROLOGICAL DISEASES

摘要

Methods, compositions and kits for detecting mutated aminoacyl tRNA synthetase (aaRS) in biological samples from a subject suspect of having or suffering from a Charcot-Marie-Tooth (CMT) disease or a CMT-related disease are disclosed herein. In some embodiments, the methods include determining the amount of mutated aaRS bound to Neuropilin 1 (Nrp1). In some embodiments, methods include detection of endogenous vascular endothelial growth factor (VEGF) bound to Nrp1. Also disclosed are methods, compositions and kits for the diagnosis of a CMT or a CMT-related disease through the detection of VEGF and/or mutated aaRS in a subject.