National ALS mouse resource is key component in effort to uncover root causes of ALS
What causes ALS? We still don’t really know.
ALS can be thought of as a component of aging gone haywire. Motor neuron die-off, a natural aging process, is accelerated to the point that those afflicted very rapidly lose the ability to move. The process is fast, relentless and unstoppable, and most patients die within five years.
Researchers have been chasing leads for years. Why did Italian professional soccer players have such a high incidence of the disease? Is there a common cause for a high percentage of sporadic (non-inherited) cases of ALS? And what underlies inherited ALS, which causes only a small number of the totalcases?
The ALS repository at The Jackson Laboratory is a key component in the effort to uncover the root causes of this devastating disease. Funded by the ALS Association, Tow Foundation and ALS Therapy Alliance, the repository seeks to develop and distribute effective, accurate mouse models for the disease so that the fundamental disease pathways can be studied by ALS researchers worldwide.
Now there’s been a big advance in the research into inherited ALS. Defects in a gene called C9ORF72 were recently linked to ALS, and it’s now thought that this is the most common cause of the inherited form of the disease. The mechanism is still unknown, but it’s thought that an accumulation of defective RNA leads to neuron death, in a process similar to that implicated in other neurodegenerative disorders. There’s a therapy available to counter RNA accumulation, but the theory must be tested before it can be brought to the clinic.
In a collaborative effort led by the ALS Association and the Robert Packard Center for ALS Research at The Johns Hopkins University, ALS researchers are developing mouse models to research both the C9ORF72 disease mechanism and the possible therapy. The models, once ready, will be made available through The Jackson Laboratory’s ALS repository, speeding the research community’s ability to verify and expand upon the original research findings. It’s an exciting new avenue of ALS research that opens a promising new opportunity to help many patients.
Gregory Cox, Ph.D., is studying the effects of genetics on amyotrophic lateral sclerosis (ALS), spinal muscle atrophy (SMA) and muscular dystrophy