Feb. 23 – “ALS, which in recent years has been discussed for the football campaign and, more recently, for the Ice Bucket Challenge, is a neurodegenerative disease that affects motor neurons (nervous system cells that control muscles), resulting in a progressive paralysis of all muscles. The disease is fatal in 3-5 years, and to date, there is no effective therapy,” summarizes Professor Vincenzo Silani, one of the leading researchers in the fight against ALS. Silani works with Dr. Nicola Ticozzi, and coordinates the Slagen Consortium, made up of six Italian ALS research centers. The two are neurologists and researchers at the Istituto Auxologico Italiano – Centro “Dino Ferrari”, Università degli Studi di Milano (IRCSS) and participated in an international study to identify a new gene associated with ALS. The research, published in Science, represents a synergistic effort of the world of science. “The current lack of drugs to treat ALS is largely a direct consequence of the lack of knowledge about the causes and mechanisms that determine the disease – explains Silani – in recent years, studies on the genetics of ALS began to shed light on these mechanisms, allowing the artificial creation of new disease models, fundamental for the study of new molecules and drugs.” In the study published in Science, the researchers compared the genomes of 2,874 ALS patients with 6,405 healthy individuals, and identified a mutation excess in the gene TBK1, coding for the TANK-binding kinase 1 protein. (red)
