Abnormal redox balance at membrane contact sites causes axonopathy in GDAP1-related Charcot-Marie-Tooth disease.

ABSTRACT: Pathogenic variants of GDAP1 cause Charcot-Marie-Tooth disease (CMT), an inherited neuropathy characterized by axonal degeneration. GDAP1, an atypical glutathione S-transferase, localizes to the outer mitochondrial membrane (OMM), regulating this organelle's dynamics, transport, and membrane contact sites (MCSs). It has been proposed that GDAP1 functions as a cellular redox sensor. However, its precise contribution to redox homeostasis remains poorly understood, as does the possible redox regulation at mitochondrial MCSs. Given the relationship between the peroxisomal redox state and overall cellular redox balance, we investigated the role of GDAP1 in peroxisomal function and mitochondrial MCSs maintenance by using high-resolution microscopy, live cell imaging with pH-sensitive fluo

SUBMITTER: Cantarero L 

PROVIDER: S-EPMC11722552 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature