Nature Communications publishes ALS study by Uniss PhD student Elena Rita Simula

Reactivation of an endogenous retrovirus underlying Amyotrophic Lateral Sclerosis (ALS)

Dott.ssa Elena Rita Simula

The work published in the prestigious journal Nature Communications on 16 May 2024 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, resulting in the accumulation of the protein in the cytoplasm of the motor neuronal cells of ALS patients, leading to their death.

The work was actively participated in by Dr. Elena Rita Simula, a guest of the National Institute of Health, Bethesda, Washington for her PhD thesis in Life Sciences and Biotechnologies at the University of Sassari, and Prof. Leonardo A. Sechi, her supervisor, who has been working for several years on the role of HERV-K in ALS and the immune response towards these endogenous retroviruses.

Amyotrophic Lateral Sclerosis (ALS) 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 an increase compared to Italy and the rest of the world, with an estimated 300 sufferers at present.

The disease can start at any age, although the most affected age group is between 60 and 80. The causes of the disease are still unknown; it is thought to be the result of a complex interaction between individual factors, in particular genetic predisposition, and environmental factors that interact throughout the individual's life.

This project, co-ordinated by Prof. Avindra Nath and Dr. Marta Garcia Montojo of the National Institute of Health, Bethesda, Washington, is being participated in by the Sassari research group co-ordinated by Prof. Sechi

I have been working for several years on understanding the molecular mechanisms underlying the onset and progression of ALS - says Dr Simula. - My PhD at the University of Sassari and my collaboration with the National Institute of Health represented a milestone in my professional and personal development, consolidating my commitment to scientific research, this is the second work done with the same group after the first one published last year in Annals of Neurology. 

Currently, Dr. Simula, after obtaining her PhD, is continuing her career as a research fellow in the Microbiology laboratories of Prof. Sechi at the Department of Biomedical Sciences of the University of Sassari, with the aim of further contributing to the understanding of how these viruses are reactivated in ALS and to the possible treatment of the disease by extending her research to their role in various neurological and rheumatological diseases and in different types of tumours.

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