According to a story from news-medical.net, researchers from The Scripps Research Institute have successfully outlined a new path for the treatment of Charcot-Marie-Tooth disease subtype 2D (CMT2D). The scientists hope that this method will be able to reverse the effects of the disease.

Charcot-Marie-Tooth disease (CMT) is the most common inherited neurological condition. The disorder is characterized by the loss of muscle tissue and touch sensation in multiple parts of the body. Some symptoms of the disorder include loss of leg musculature, hammer toe, high foot arch, scoliosis, weakness of the forearms and hands, pain, problems with speaking and swallowing, tooth grinding, and deformed hip sockets. The severity of symptoms can vary greatly, even within the same disease subtype. An important part of treatment is occupational and physical therapy in order to maintain muscle strength, movement ability, and flexibility. The CMT2D subtype is distinct from others because the hands and forearms are affected more severely. To learn more about Charcot-Marie-Tooth disease, click here.

The study outlines a possible approach for treatment for CMT2D, and highlights the value of understanding the causal mechanisms of CMT in order to begin developing treatment. The underlying cause of CMT2D is a mutation that affects the GlyRS protein, which is expressed by cells across the body and plays a role in translating genetic information into proteins. Strangely, while this process happens throughout the body, damage only occurs in the hands and feet. This is because GlyRS also interacts with another protein called HDAC6, which is crucial for the process of forming microtubules, which allow for nerve signals to travel efficiently.

In CMT2D, the relationship between GlyRS and HDAC6 is affected, which affects the formation of microtubules. This makes nerve signals travel much less effectively; the longer the path, the less effective the signaling, which explains why the nerves of the hands and feet are affected the most. A mouse model of the disease demonstrated that introducing a molecule that intervened in this process could help restore normal nerve function. However, the molecule would not be safe for human use. Nevertheless, the researchers are confident that a similar treatment approach could be developed that could reverse the effects of CMT2D. In the future, more studies of other subtypes of CMT could reveal further treatment approaches.

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