For First Time, Potential Treatment Path Becomes Clear for Subtype of Charcot-Marie-Tooth Disease

An unexpected finding from the Scripps Research laboratory of Xiang-Lei Yang (photo), PhD, has illuminated a potential strategy for treating the inherited neurological disease Charcot-Marie-Tooth (CMT), for which there is no approved medicine today. CMT is a progressive disease that typically develops early in life, affecting roughly 1 in 2,500 people. Over time, the disease inflicts damage on patients' peripheral nervous system--which extends from the spinal cord into the hands and feet--often resulting in difficulties with balance, walking, and fine motor skills such as writing or buttoning a shirt. In a study that was published online on November 6, 2019 in Nature Communications, Dr. Yang and her team show that a drug may be able to prevent the disease-causing mechanisms from occurring within cells, quelling many key symptoms, Including Motor Deficits. The open-access article is titled “Transcriptional Dysregulation by a Nucleus-Localized Aminoacyl-tRNA Synthetase Associated With Charcot-Marie-Tooth Neuropathy.” The approach centers on enzymes known as aminoacyl-tRNA synthetases (aaRSs), which are pervasive throughout the body. They are the largest protein family linked to CMT disease, and also the long-running research specialty of Dr. Yang's lab. These enzymes are essential to life because they kick off the first step of making new proteins, which are the building blocks of everything from blood and hormones to skin and bones. But in patients with CMT, some of the aaRS enzymes don't function as they should. As a result, peripheral neurons aren't made properly and become toxic to the peripheral nervous system. In her search for a potential treatment approach, Dr. Yang wanted to find out why the mutated enzymes only seem to affect peripheral neurons.
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