According to a story from Charcot-Marie-Tooth news, researchers have found that models of mutations affecting the mitofusin 2 protein (MFN2), which is the protein that is affected Charcot-Marie-Tooth disease type 2A, could play a role in predicting the severity of the disease. This research was originally published in the academic journal Scientific Reports.
About Charcot-Marie-Tooth Disease
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. Type 2 causes damage to the neuronal axon instead. 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.
Type 2A Charcot-Marie-Tooth Disease and MFN2 Mutations
The MFN2 gene plays a vital role in the fusion of mitochondria. Mitochondria are the cellular organelle that are responsible for producing energy for the cell, and mitochondrial fusion is a critical part of normal cellular function. Over 100 mutations of the MFN2 gene are known to science so far. Which mutations are involved can cause variations in how Charcot-Marie-Tooth disease type 2A presents. Some patients may experience the most characteristic symptoms of muscle weakness and sensation issues in the arms and legs, but some mutations also cause vision and hearing problems.
Research Findings
The scientists looked at 26 mutations which were most closely associated with the substitution of amino acids. The research also required data from 26 patients, with each one having one of the mutations that were selected for analysis. By comparing the predictions done with molecular modeling to the manner in which the disease presented in each of the patients, the researchers found that the models were able to accurately predict severity 73 percent of the time.
While larger scale studies will be necessary, the findings may have revealed a more effective method for predicting disease severity for Charcot-Marie-Tooth disease type 2A patients.
Check out the original study here.
