Diseases of Charcot-Marie-Tooth (CMT) are a heterogeneous group of inherited neuropathies. The molecular mechanisms leading to the CMT are as varied as their genetic and related genes are translated by a wide variety of proteins with roles in central nervous system cells.

A common denominator in all these is their organization and degradation and its role in the formation of vesicles through the endocytic pathway. Mutations in the protein SH3CT2 (KIA1985) cause CMT disease type 4C (CMTC4C), one of the most common forms of inherited demyelinating peripheral neuropathy. Lupo et al., Institute of Biomedicine of Valencia, shown in this paper the results of an analysis of mutations in different families SH3CT2.

A primary objective was to investigate the subcellular localization of SH3CT2 and its possible involvement in known cellular pathways. This work has shown that SH3CT2 protein is present in many components of the endocytic pathway of cell trafficking, among which includes early endosomes, the late and covered with clathrin vesicles very near the trans-Golgi complex in own plasma membrane.

For proper anchorage of the protein in the cell membrane, in addition to miristoilación are required SH3 and TPR domains. Also been shown that mutations affecting the localization of the protein in endosomes and the plasma membrane. The researchers suggest that endocytic pathways and membrane trafficking are involved in the pathogenesis of the disease CMT4C and postulate that mutations of the protein SH3CT2 may affect communication between Schwann cells and axons, causing an abnormal formation of myelin .