“Bonini and her team had previously worked with ataxin 2 in studies showing that it could cause neurodegeneration in flies.”
“Using yeast and fruit flies as simple, yet rapid and powerful models, then following up with human DNA screening, the team 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.”
“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.”
“Among the genes that modified toxicity was the yeast counterpart of ataxin 2.”
“Results of the study were confirmed in fruit fly models, in biochemical analyses and in human cells, revealing that ataxin 2 is a potent modifier of TDP-43.”
“The study showed that ataxin 2 and TDP-43 interact in animal and cellular models to promote pathogenesis.”
“The less the amount of ataxin 2, the less was the toxicity.”
“Because reducing ataxin 2 levels in yeast and flies was able to prevent some of the toxic effects of TDP-43, we think that this might be a novel therapeutic target for ALS," Gitler said.”
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