In people with CMT1X cell-to-cell communication within the peripheral nervous system is affected, leading to a breakdown in nerve signals resulting in a progressive muscular atrophy (wasting or loss of muscle tissue), weakness, and loss of sensation in the limbs.

In this CMTA-funded project lead by Drs. Laurent Bogdanik, Robert Burgess, and John Svaren, researchers are using a mouse model for CMT1X, which has previously shown a clear neuropathy. The project consists of two broad sets of activities:

1) A range of in-life phenotyping tests to determine the physical characteristics of disease progression.

2) Molecular tests to assess if there are differences between the CMT1X and wild type mice (wild type mice are mice that don’t have the CMT1X mutation).

If differences are found, the team can then investigate if those can be restored to wild type mice levels after treatment.

At the in-life-phenotyping level, the team found the speed of propagation of signals along nerves as well as the connection of these nerves with muscles, are diminished in the CMT1X mice compared to the wild types. At a molecular level, they observed increased neurodegeneration in CMT1X mice compared with the wild type.

The team treated CMT1X mice with a drug called triacetin, which is commonly used as a food additive and found naturally in foods such as papaya. No effect of the treatment with triacetin was observed on those tests. The next steps are to explore the molecular aspects to assess neurodegeneration and the effect of the treatment of these disease characteristics.

Published: May 22, 2023