Amyotrophic lateral sclerosis, also known as ALS, is a neurodegenerative disease triggered by the death of nerve cells in the brain and the spinal cord that are responsible for muscle control. When these neurons die, the ability of the brain to initiate and control muscle movement is lost, eventually causing paralysis.
A new study has identified a new gene linked to amyotrophic lateral sclerosis. In this study, lead investigator Norbert Weiss, Ph.D., of the Institute of Organic Chemistry and Biochemistry in Prague, and his team, in collaboration with scientists from the University of Sydney and the University of Oxford reveal how mutations in a gene called CACNA1H increase susceptibility to ALS.
“This gene encodes for a calcium channel that is essential for brain cells to communicate with each other”, Weiss said.
The discovery is significant because about 10 percent of ALS cases are believed to be caused by mutations in one or more genes.
“We found that when this gene is mutated, it decreases the ability of nerve cells to generate electrical signals, which may directly alter the control of motor movements”, Weiss added.
This discovery came with its own mystery. “We were surprised to see that this gene is expressed in different subsets of nerve cells than the one that classically degenerate in ALS”, Weiss said, adding “this may take us to the very root of the disease”.
While the new study represents a landmark in ALS research, “a cure for the disease is a long way off. Future research should build upon this knowledge and explore the detailed mechanisms how CACNA1H mutations cause the disease. As of now, these mutations have been found in a single family, but it is clear that this gene is an important step forward in our understanding of the genetic causes of ALS”, concluded Weiss.