Statale University of Milan: genetic marker for Amyotrophic Lateral Sclerosis discovered
The cover of the March issue of the prestigious “Science Translational Medicine” journal, dedicated to the baseball champion Lou Gehrig who tragically died due to Amyotrophic Lateral Sclerosis (ALS), awards research on neurodegenerative diseases, such as Amyotrophic Lateral Sclerosis (ALS) carried out by the Statale University of Milan in collaboration with several U.S. and Italian partners.
With this new study, the team of Italian researchers coordinated by Vincenzo Silani of Statale University, with support from Istituto Auxologico Italiano and Ospedale Maggiore of Crema, have discovered the efficacy of a specific biomarker to monitor genetic mutations that underlie Amyotrophic Lateral Sclerosis and other neurodegenerative diseases.
Based on the results of a previous study, which described the accumulation of a specific protein (poliGP) in brain tissues and cerebrospinal fluid of patients with Amyotrophic Lateral Sclerosis with mutation of C9orf72 gene, the Italian researchers have developed a pharmacological biomarker that can help diagnose this disease and increase the efficacy of future therapeutic approaches.
“The importance of this scientific contribution – said the researchers – is the further definition of a pharmacodynamic marker of the neurodegenerative disease underlying the mutation of C9orf72 gene, to understand ALS, FTD but also, even with a reduced incidence, Alzheimer’s Disease, as well as extrapyramidal and psychiatric diseases.”
“The therapeutic lack of efficacy of several molecules evaluated to date in controlled studies – continued the researchers – was attributed also to the lack of a reliable biomarker that seems to be available today, like in C9orf72‐positive cases, not only to support the diagnosis, but also to define pre-symptomatic patients and, especially, to evaluate therapeutic efficacy: pre‐clinical studies with antisense oligonucleotides are a reality and, therefore, it will be soon possible to use them also in carriers of mutations of C9orf72 and of the CSF marker described.”
This discovery is an important advance in understanding neurodegenerative diseases such as Amyotrophic Lateral Sclerosis (ALS) and paves the way to a new possible therapeutic approach in carriers of C9orf72 gene mutation experimentally studied, as well suggesting that it will be hopefully possible to develop new and more effective targeted individual treatments.