The Link Between Charcot-Marie Tooth Disease And Enzymes

Charcot-Marie Tooth – or CMT for short – is a rare neurological disease and one of the hereditary motor and sensory neuropathies of the peripheral nervous system. It is characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. And, so far, treatments for it have been hard to pinpoint. This is, in part, because so many variations of the condition exist. Mutations on more than 90 genes have been positively linked to the disorder – and a patient needs just one of those mutations for the disease to emerge. Regardless of which genetic mutation is present, CMT universally inflicts damage on patients' peripheral nervous system, which extends from the spinal cord into the hands and feet, and patients often experience difficulties with balance, walking and fine motor skills.

Researchers recently focused on enzymes - known as aminoacyl-tRNA synthetases - the largest protein family linked to CMT disease. These enzymes are pervasive throughout the body and attach to the appropriate amino acids to kick off the first step of making new proteins. Considering that proteins are the building blocks of everything from blood and hormones to skin and bones, this process is central to human life.

Using patient samples and viewing the enzymes in their natural cellular environment, the lab found that any loss of function disappeared when the mutated enzymes were paired with other healthy enzymes that exist within a cell. The finding makes sense as CMT would be far more severe if this enzyme's crucial biological function was out of place.

Since there was no loss of function, the researchers wanted to find out how these mutated enzymes were implicated in disease, and to do so, they looked at shape rather than function using biochemical and biophysical analysis tools. They discovered that the mutated enzymes took on an unusual extended shape unlike their healthy counterparts, which have a more compact design with far less exposed surface. "The extra surface area may create unwanted interactions with nearby proteins, and these interactions could be what leads to a diseased state," says Scripps Research Institute Professor Xiang-Lei Yang, Ph.D., who led the research. “The genetic mutations of CMT are well understood, but the disease-causing mechanisms are still a mystery on a molecular and cellular level. In our latest study, we took a bottom-up approach, looking for commonalities among different mutations in one of these genes in the hope that we will uncover new insights for treatment."

The findings appear in the journal PNAS. Plans call for looking more deeply into the connection between different forms of CMT, which may lead to general strategies for treating the disease. "One in 2,500 people have CMT, and today there is no therapy available to help them," Yang added. "We believe the best path to a treatment is to start by understanding what is fundamentally wrong in the biological environment of this complex neurodegenerative disease."

Your Mouth And Your Health

When dentists and hygienists look at your teeth they also see early signs of certain diseases often before patients know they have them. Many diseases can show their first symptoms in the mouth and can be discovered through routine dental examinations. Early detection of these diseases, which include diabetes, leukemia and oral cancers, can improve treatment outcomes. The regularity of dental checkups offers an opportunity to observe changes in a patient’s health. “The mouth is a mirror of the body,” says Nico Geurs, DDS, University of Alabama at Birmingham Department of Periodontology. “Dentistry has emphasized wellness and preventive care with a focus on oral health. Now our team aims to optimize overall health through great oral care.” In dental care, the most important thing we provide is maintenance care.”

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Written By:

With over 30 years of writing and editing experience for newspapers, magazines and corporate communications, Kevin Kerfoot writes about natural health, nutrition, skincare and oral hygiene for Trusted Health Products’ natural health blog and newsletters.

Reviewed By:

Founder Ray Spotts has a passion for all things natural and has made a life study of nature as it relates to health and well-being. Ray became a forerunner bringing products to market that are extraordinarily effective and free from potentially harmful chemicals and additives. For this reason Ray formed Trusted Health Products, a company you can trust for clean, effective, and healthy products. Ray is an organic gardener, likes fishing, hiking, and teaching and mentoring people to start new businesses. You can get his book for free, “How To Succeed In Business Based On God’s Word,” at www.rayspotts.com.