30 New Genes Affiliated with Charcot Marie Tooth Disease Identified

Researchers have just uncovered 30 new genes that may cause Charcot-Marie-Tooth Disease (CMT).  These genes were uncovered using computer analyses of biological data, a process called bioinformatics. This study was published in BioMed Research International

The Study

Many genes are already known to be  involved in CMT. This team of researchers noted 100 genes reported by others to be related to the disease. Then, they utilized bioinformatics to understand the function of each gene on a broader scale than had been studied before.

Bioinformatics is a useful tool because it can help researchers distinguish patterns, relationships, sequences of protein, and DNA to help determine how they function and interact.

Their first bioinformatics assessment was a gene ontology analysis. They wanted to understand the biologic functions connected to CMT-associated genes. They found results consistent with previous studies. Some genes were involved with axons and some were involved with myelin, cleanly dividing CMT into two forms. Axonal CMT means that patients face axon impairment. Contrarily, demyelinating forms of the disease are characterized by myelin degradation.

Also uncovered was that the genes associated with CMT could also be involved in processes of cell metabolism, processes of autophagy, and processes controlling tRNA production.


Crosstalk  is the interactions between  biological processes. This team specified that for any 2 processes that had a minimum of 3 of the 100 CMT-related genes, a crosstalk had occurred.

Their analysis showed that genes relating to the disease had 83 total biological processes. 81 of these had crosstalk with a minimum of one additional process.

Their findings could be easily divided into 3 groups-

  1. Nervous system function
  2. Metabolism
  3. Immunity

2 much smaller groups were also specified.

  1. Autophagy
  2. tRNA production

The team then conducted a test to identify which additional genes are associated with the 100 genes found in their initial scan of the literature. This is where they came to identify an additional 30 genes that are associated with CMT that have never before been documented. Given that these genes interact with other known genes that cause CMT, the  researchers concluded that they do influence CMT and should therefore be studied further.

Looking Forward

The results from this study are incredibly valuable because they have opened the door for new research on new genes impacting CMT patients. The researchers are continuing to use other methods to verify their bioinformatic findings.

Ultimately, this greater understanding of the genes that cause CMT can help us to understand the biologic mechanisms, gene interactions, molecular processes, and perhaps future treatments for CMT

You can read more about this study here.

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