Reactivation of an endogenous retrovirus underlying amyotrophic lateral sclerosis . It is the conclusion of the work published in the journal Nature Communications that opens new perspectives for the treatment of ALS through the inhibition of the expression of these retroviruses: some are already being evaluated in clinical trials.
The project, coordinated by Avindra Nath and Marta Garcia Montojo of the National Institute of Health, Bethesda, Washington, saw the active participation of Elena Rita Simula , guest of the Institute for her doctoral thesis in Life Sciences and Biotechnologies of the University of Sassari, and of Leonardo A. Sechi , his tutor, who has been dealing with the role of HERV-K in ALS and the immune response towards these endogenous retroviruses for several years .
Paolo Solla, Tommaso Ercoli and Elisa Ruiu contribute to the clinical part of the Sassari research group coordinated by Sechi within the University Hospital of Sassari.
The work documents, for the first time, how the reactivation of a specific insertion of the endogenous retrovirus Herv-K inhibits the expression of asparaginase, an enzyme that degrades the TDP-43 protein . The consequence is the accumulation of the protein in the cytoplasm of the motor neuronal cells of ALS patients. Leading them to death .
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease that affects motor neurons, with a particularly high incidence (2.5-3.6/100,000 inhabitants/year) and prevalence (18/100,000 inhabitants) in Sardinia and increasing compared to Italy and the rest of the world, currently estimating the presence of around 300 patients. The disease can begin at any age, although the most affected group is between the ages of 60 and 80 .
The project has benefited from the financial support of important bodies, including the Ministry of Health which recently financed it with one million euros.
