Mechanism of DPR protein-induced cell death

Various brain diseases have different effects on the body and behavior. Frontotemporal dementia (FTD), for example, is a type of early-onset dementia with changes in personality and emotions; while amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease, affects nerves controlling movement. Yet both disorders may share similar underlying biological mechanisms. In recent studies, scientists have found that both FTD and ALS may involve a mutated form of the gene called chromosome 9 open reading frame 72 (C9ORF72). This genetic mutation appears to promote the generation of harmfully-shaped proteins called dipeptide-repeat proteins (DPRs). DPRs can clump together abnormally to form protein aggregates that may promote brain cell damage and death in both FTD and ALS.