According to a story from Charcot-Marie-Tooth News, a recent study suggests that changes in the levels of two proteins in the body could serve as biomarkers to indicate the progression and disease activity in patients with Charcot-Marie-Tooth disease type 2. The study was first released in the journal BMJ. Monitoring these proteins could help caregivers more accurately determine the extent of progression in the disease.
About Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT) is a heritable disorder of the peripheral nervous system. This disease is characterized by a progressive loss of touch sensation and muscle tissue in different areas of the body. There are several mutations that have been identified as causes of the disease. In most types of Charcot-Marie-Tooth disease, the mechanism involves the destruction of the myelin sheath around nerve cells, preventing them from communicating. However, in CMT2, the function of axons are affected. Axons are long fibers that help neurons transmit their electrical signals. CMT2 often has less severe symptoms and tends to affect the legs the most severely. About 20-40 percent of patients have type 2. Symptoms of Charcot-Marie-Tooth disease include hammer toe, high foot arch, foot drop, atrophy of leg and arm muscles, loss of sensation in the affected limbs, tremors, scoliosis, and problems with chewing, swallowing, and speaking. To learn more about Charcot-Marie-Tooth disease, click here.
The two proteins that were identified in the study are called GAMT and PFN2. The study found that all patients with CMT2 had reduced levels of these proteins compared to the control group. This happened regardless of which mutation had caused CMT2 in each case. The study also found that PFN2 levels steadily decreased over time as CMT2 patients aged, but increased in the healthy controls.
The study was not able to determine if protein levels correlated to disease severity, as none of the patients in the study had disease that could be considered severe. However, PFN2 and GAMT can both be monitored in order to inform disease activity and treatment. There also may be some evidence to suggest that PFN2 could play a role in the causal mechanism of PFN2.
The discovery is significant because there was previously a lack of useful biomarkers for this subtype of Charcot-Marie-Tooth disease.