A new genetic risk factor for amyotrophic lateral sclerosis, commonly known as ALS or Lou Gehrig's disease has been identified by scientists.
Using yeast and fruit flies as simple, yet rapid and powerful models, then following up with human DNA screening, an international study led by biologists and neuroscientists from the University of Pennsylvania found evidence that mutations in the ataxin 2 gene were a genetic contributor to the disease.
More specifically, the study shows that expansions of a run of the amino acid glutamine in ataxin 2 are associated with an increased risk for ALS, with a frequency of 4.7 percent of ALS cases examined.
There is no cure for ALS and the current treatment only slows disease progression.
The identification of pathological interactions between ataxin 2 and TDP-43, another ALS-associated disease protein, together with the strong genetic association of ataxin 2 intermediate-length polyQ expansions and ALS, should aid in the development of biomarkers and empower the development of new therapies for this disease.
The findings were published this week in Nature.