According to a story from UK Healthcare, a team of researchers and scientists at UK Healthcare is preparing to start a clinical trial that will test a new therapy aimed at treating a rare form of genetically-linked amyotrophic lateral sclerosis (ALS).
This form of ALS appears to be concentrated in the central Appalachian region. This unusual type of ALS was originally discovered by Dr. Edward Kasarkis, who is the director of the ALS Multidisciplinary Clinic at UK.
ALS is a type of progressive, degenerative disease that is characterized by the destruction of the neurons that are responsible for voluntary muscle movement. The disease causes symptoms such as progressive muscle atrophy, weakness, cramping, and stiffness, difficulty speaking and swallowing, and eventually the loss of movement and cognitive decline. It has no cure and is ultimately fatal, with most patients dying within four years after diagnosis. In most cases the cause of ALS is unknown, but about ten percent are genetically linked. To learn more about ALS, click here.
Alarm bells began going off for Dr. Kasarkis when he had two patients with ALS come in from the same town and with the same last name…15 years apart from each other.
The trend became even more obvious when the second patient’s son appeared with the disease. Over the years, several different genetic variants had been linked to ALS. The genetic cases in Appalachia were being caused by a mutation to the FUS gene. This gene plays a major role in controlling MnSOD, which plays an important role in the survival of nerve cells. People with the mutation have an MnSOD deficiency, leading to the death of these cells.
Research of public records has traced the family with the mutation to 19th century Lee County, VA. This research has been extremely valuable for diagnosis; if a patient comes in with symptoms and has a certain family name, Dr. Kasarkis already knows the specific type of ALS involved. The genetic variant appears to be completely unique to the region.
