Scientists have made an exciting breakthrough in unraveling the genetic basis of two debilitating neurodegenerative disorders, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Two independent studies, published online this week by Cell Press in the journal Neuron, identify a new human genetic mutation as the most common cause of ALS and FTD identified to date. This mutation explains at least a third of all familial cases of ALS and FTD within the European population. The research provides key insight into ALS and FTD and may pave the way for development of therapeutic strategies for these currently incurable diseases.
ALS, also known as Lou Gehrig's disease, causes destruction of neurons that control voluntary movement. ALS is characterized by a progressive paralysis that often leads to death from respiratory failure within a few years of diagnosis. FTD, the second most common cause of early-onset dementia, is associated with degeneration of the frontal and temporal lobes of the brain and leads to a dramatic deterioration in personality, language and behavior. These have been suggestions that these two disorders share some underlying genetic features.
About 10% of ALS cases and about 50% of FTD cases are thought to be inherited, and, although multiple genes have been linked with the disorders, much of the genetic risks has remained unexplained. "Each new gene implicated in the etiology of ALS or FTD provides fundamental insights into the cellular mechanisms underlying neuron degeneration, as well as faciliating disease modeling and the design and testing of targeted therapeutics," explains Dr. Brayn J. Traynor from the National Institutes of Health who is an author of one of the studies.