“In these studies, we turned skin cells of patients who have ALS into motor neurons that retained the genetic defects of the disease,” Baloh said. “We focused on a gene, C9ORF72, that two years ago was found to be the most common cause of familial ALS and frontotemporal lobar degeneration, and even causes some cases of Alzheimer’s and Parkinson’s disease. What we needed to know, however, was how the defect triggered the disease so we could find a way to treat it.”
Recognition that the mutations adversely impact regulation of RNA could lead to targeted therapy to correct the problem. The mutation’s location in the prion-like domain might also prove significant. Although the mutations in hnRNPA2B1 or hnRNPA1 appear to be rare, hundreds of other RNA-binding proteins have prion-like domains. Taylor said patients with unexplained neurodegenerative diseases may have mutations in these proteins.
“This new finding sheds light on how the mutation causes these disorders, and it provides us with a marker that helps us track disease progression in patients with this disorder and potentially combat the disease,” says senior author Leonard Petrucelli, Ph.D., a molecular neuroscientist and director of the Department of Neuroscience at Mayo Clinic in Florida.
Researchers are hopeful after discovering a genetic mutation they think is responsible for the debilitating neurological disorder also known as amyotrophic lateral sclerosis (ALS). And they hope the findings might lead to a cure for another dreaded brain disease – dementia.