PHILADELPHIA: Scientists from the University of Sheffield have discovered a novel function of the C9orf72 protein which is linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) — giving a new insight into the most common genetic cause of the degenerative diseases.
The pioneering study found that the C9orf72 protein, which is encoded by the C9ORF72 gene, functions in the autophagy pathway — something which is defective in patients with the most common inherited form of ALS and FTD.