X-linked Charcot Marie Tooth mutations alter CO₂ sensitivity of connexin32 hemichannels.

ABSTRACT: Connexin32 (Cx32) is expressed in myelinating Schwann cells. It forms both reflexive gap junctions, to facilitate transfer of molecules from the outer to the inner myelin layers and hemichannels at the paranode to permit action potential-evoked release of ATP into the extracellular space. Loss of function mutations in Cx32 cause X-linked Charcot Marie Tooth disease (CMTX), a slowly developing peripheral neuropathy. The mechanistic links between Cx32 mutations and CMTX are not well understood. As Cx32 hemichannels can be opened by increases in PCO₂, we have examined whether CMTX mutations alter this CO₂ sensitivity. By using Ca²⁺ imaging, dye loading and genetically encoded ATP sensors to measure ATP release, we have found 5 CMTX mutations that abolish the C

SUBMITTER: Butler J 

PROVIDER: S-EPMC10771293 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature