Two recent studies have developed new mouse models that demonstrate motor, cognitive and neurodegeneration deficits, as well as the mutant genes that may be causing these diseases.
The two studies, from the University of Gainesville, the University of California San Diego and Massachusetts General Hospital in Boston, receive funds from The ALS Association.
The mouse models show the C9orf72 mutations that are similar to frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). One of the studies even demonstrated that the diseases could be effectively ameliorated using antisense therapy to fight the mutant gene.
“These studies represent significant progress in understanding the consequences of the C9orf72 gene mutation and in developing a therapy against it,” Dr. Lucie Bruijn, chief scientist for The ALS Association, said.
The goal is to develop better preventions, diagnoses and treatments for ALS and FTD patients everywhere. This neurodegenerative disease afflicts countless people around the globe.
“These models provide important new ways to learn more about the effects of the C9orf72 gene mutation and will contribute directly to further development of antisense therapy approaches to reduce those effects,” Bruijn said. “Interestingly, these models and those C9orf72 mouse models published earlier, all present slightly differently. Understanding these differences may shed further light on the disease process.”
