Charcot-Marie-Tooth disease (CMT) is an inherited condition which causes damage to nerve cells known as motor neurons. These cells are important as they ‘communicate’ between the spinal cord and muscles, sending signals to make muscles contract. If they are damaged, this communication is broken, which causes muscles to weaken.
More than 90 different genes can cause CMT, leading to different types of CMT. This project will focus on one type, CMT2D, caused by changes in the GARS1 gene. Some potential treatments will soon be entering clinical trials; however, it is unknown whether genetic changes in GARS1 directly cause nerve cells to stop working or if the damage of nerve cells is caused indirectly through weakened muscles. This is important to understand, as the new therapies need to be designed to target the primary tissue responsible for the development of the condition.