Studies on cellular signal transduction of PNS demyelination

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Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy of the peripheral nervous system (PNS) and is genetically and clinically heterogenous. CMT disease is characterized by progressive sensory neuron loss and by weakness, beginning in the legs and manifesting later in the hands. Based on nerve electrophysiology, most patients with CMT are categorized into two major types : CMT disease type 1 (CMT1) and CMT disease type 2 (CMT2). While many of the genes and mutations responsible for CMT disease have been identified, we still do not know what compound protects against nerve fiber loss, nor how it may be reversed. Hre, we have found that some small compounds (inhibitors for neurotrophin receptors and Rho family small GTPases) impaits demyelination in in vitro CMT1A model (the responsible gene : PMP22) and have now tried to applied to the effects on in vivo model. Thus, these results have a previously unknown potential to improve defective mylinogenesis associated with CMT1A in vitro, indicating that their associated signaling pathways (primarily in the new gene dock7) should be a potential therapeutic targets for treatments aimed at improving defective mylinogenesis.