Metabolic and biophysical study of the MFN2^Ile213Thr mutant causing Hereditary Motor and Sensory Neuropathy (HMSN).

ABSTRACT: Charcot-Marie-Tooth (CMT) 2A disease, a genetic axonal nervous lesion, results from MFN2 pathogenic variation, and this gene plays a pivotal role in mitochondrial dynamics and calcium signaling. However, the underlying mechanism linking MFN2 defect to progressive dying-back of peripheral nerves is still unclear. The present work focused on analyzing one CMT2A patient from multiple perspectives. Clinical and pathologic evaluation was initially conducted on the recruited case. Subsequently, Sanger sequencing and whole-exome sequencing (WES) were performed for genetic detection. To reveal the cell metabolic alteration caused by the identified variant, this study also established and transfected plasmid vectors in HEK293 cells and analyzed cell metabolites through liquid chromatography

SUBMITTER: Yang K 

PROVIDER: S-EPMC8581889 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature