According to a story from Charcot-Marie-Tooth News, early preliminary testing of a possible gene therapy treatment for a certain type of Charcot-Marie-Tooth disease showed potential in a mouse model. This gene therapy is intended to treat Charcot-Marie-Tooth disease 4 subtype C (CMT4C) and it may have potential in other diseases as well. The findings come as the result of a study in which researchers aimed to learn more about the potential utility of gene therapy as a treatment for Charcot-Marie-Tooth disease.
About Charcot-Marie-Tooth Disease (CMT)
Charcot-Marie-Tooth disease is a hereditary disorder of the peripheral nervous system. It is most characterized by a progressive loss of touch sensation and muscle tissue in several different parts of the body. The cause of this disease is usually linked to a genetic mutation, but the mutation involved varies depending on the variant of Charcot-Marie-Tooth disease. There are multiple types of Charcot-Marie-Tooth disease, with all types aside from type 2 having a demyelinization effect. Charcot-Marie-Tooth disease 4 subtype C is known for its potential to lead to breathing problems. Symptoms include foot drop, muscle wasting (typically in the arms, legs, and hands), painful muscle spasms, loss of sensation in the limbs, scoliosis, trouble speaking, chewing, swallowing, and tremors. Treatment typically includes therapy and surgery in order to maintain function. There is no cure. The disease can occur early in life or as late as the 30s and 40s. To learn more about Charcot-Marie-Tooth disease, click here.
About The Study
The study focused on this specific subtype of Charcot-Marie-Tooth disease because there is a very accurate mouse model for it. Charcot-Marie-Tooth disease 4 subtype C is caused by mutations of the SH3TC2 gene. The protein that it codes for is not well known but appears to play a role in the production of myelin in peripheral nerve cells. The scientists used a lentiviral vector in order to deliver a functioning copy of human SH3TC2 into the affected mice.
The treatment resulted in normalized protein expression in three week old mice as well as improved motor skills and nerve function.
The results of this study were first published in the scientific journal Brain.
