Mouse Study Reveals Possible Therapy for Charcot-Marie-Tooth Disease

Researchers have recently conducted a study using mouse models of Charcot-Marie-Tooth (CMT) disease, titled “CMTM6 Expressed on the Adaxonal Scwann Cells Surface Restricts Axonal Diameters in Peripheral Nerves.” It was published in Nature Communications and notes that blocking the CMTM6 protein may be a treatment option for CMT.

About CMT

Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy, is a neurological disorder that affects the peripheral nervous system. It occurs as the result of mutations in various genes (CMT1, CMT2, CMT3), all of which result in the death of peripheral nerves. Depending on which gene is affected, this condition can be inherited in an autosomal dominant or recessive pattern. There is also an X-linked version of the disease, which is passed down through mutations of the GJB1 gene. Regardless of inheritance, affected individuals may experience foot deformities, difficulty with walking and fine motor skills, weakness in the hands and feet, and lower leg deformities. There is currently no cure for this disease, although physical and occupational therapy are used to maintain muscle strength and use. Pain medications may also be prescribed.

About the Study

The study was conducted by medical professionals at the Max Planck Institute of Experimental Medicine using mouse models. Specifically, they were investigating the link between axon function and Schwann cells.

Schwann cells are responsible for producing myelin, the protective covering of nerve cells. Researchers discovered that the CMTM6 protein in these cells can be blocked, therefore thickening nerve fibers and speeding up the electrical signals that travel on them. They found that this could be a possible therapy option for CMT patients.

In order to discover this, researchers isolated Schwann cells within healthy mice and identified the CMTM6 protein. They then created mouse models who could not produce the protein, which immediately resulted in increased diameters of axons within the peripheral nervous system. Electrical impulses moved faster in these mice as well.

All of this data showed them that the CMTM6 protein restricts axonal diameters and contributes to CMT. Hopefully this research will allow for treatment breakthroughs that better the lives of those with Charcot-Marie-Tooth disease.

Find the source article here.

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