Introduction

The X-linked form of Charcot-Marie-Tooth neuropathy (CMTX1) is characterized by progressive muscle atrophy and tactile alteration which can lead to pain: GAP24 peptide may cure CMT1X by intervening on the molecular mechanism which is altered by a set of genetic mutations.

Technical features

Currently there is no cure for the X-form of Charcot-Marie-Tooth disease (CMTX1). This invention may be an innovative treatment based on peptides derived from the sequence of GAP24 mimetic peptide. CMTX1 is caused by mutations of GJB1 gene which encodes connexin 32 (Cx32) protein, which forms fundamental ion channels in the myelin sheath of motor and sensory nerves. GAP24 peptide could restore the proper function of Cx32 channels by removing the inhibition caused by the mutation in patients carrying C-terminal truncations of Cx32. The invention has proven to be effective in vitro in human HeLa cells.

Possible Applications

• Treatment of patients affected by the X-linked form of Charcot-Marie-Tooth neuropathy.

Advantages

• No treatments available for the X-linked form of Charcot-Marie-Tooth neuropathy.