A patient with Charcot’s disease, in Briançon on July 5, 2022 ©BelgaImage
Scientists from the Flemish Institute for Biotechnology (VIB) and KU Leuven have identified three proteins that play an important role in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. These proteins might form the basis of new therapies once morest these diseases, the VIB announced on Tuesday.
Three proteins involved in these pathologies
ALS, also called Charcot, and frontotemporal dementia (FTD) are two incurable diseases in which brain cells die abnormally. About 1,000 people suffer from ALS in Belgium as well as regarding 4,000 from FTD. Muscle function in patients with Alzheimer’s disease Charcot deteriorates rapidly, causing them to gradually lose control of their bodies. Cognitive decline characterizes FTD. As a result, patients exhibit behavioral changes and memory function declines. Some people have symptoms of ALS combined with those of FTD. These two pathologies can indeed be caused by a mutation of the c9orf72 gene.
How this mutation leads to these diseases was unclear until now. Three proteins have been identified by a research team from Leuven led by Professor Ludo Van Den Bosch (Center for Brain and Disease Research at VIB-KU Leuven). These are the NEK6, HNRNPK and RRM2 proteins. The team was able to establish that these proteins play a role in the pathological process of ALS and FTD. “These results represent both a scientific and technical breakthrough in the field of dementia research.“, said Professor Van Den Bosch. “Our research is helping to elucidate the mechanisms of ALS and FTD and hopefully find a cure for these drastic conditions.“.