Biophysical investigation of the molecular pathogenesis of CMT1X neuropathy

by prof. Mario Bortolozzi, Physics and Astronomy Dept., Padova

When: June 4th, 2020 – 3:00 pm

Where: Zoom meeting ( ID: 947 1923 3989 )

Abstract: Mutations of connexin 32 (Cx32) protein cause the X-linked form of Charcot–Marie–Tooth disease (CMT1X), a demyelinating peripheral neuropathy for which there is no cure. A growing body of evidence indicates that ATP release through Cx32 hemichannels in Schwann cells could be critical for nerve myelination, but it is unknown if CMT1X mutations alter the physiological mechanism that controls Cx32 hemichannel opening and ATP release.

Our study uncovered a link between CMT1X and Cx32 hemichannel dysfunction, suggesting a candidate peptide for treating the disease caused by the R220X mutation of Cx32. The investigation was carried out by a combination of in vitro fluorescence optical microscopy combined with patch clamp and in silico numerical simulations.