Molecular signature of ALS discovered

A new study carried out by Sapienza Universitá di Roma in collaboration with the Istituto Pasteur-Italia and Istituto Italiano di Tecnologia (IIT) laboratory has identified potential markers of the progression of Amyotrophic Lateral Sclerosis: small molecules of non-coding RNA, the microRNAs. The study has just been published in Cell Death Discovery


Amyotrophic Lateral Sclerosis (ALS) is also known as motor neuron disease because it destroys the nerve cells that control voluntary muscle movement. It is a degenerative disease that progressively leads to paralysis and death of the patient within a few years of the onset of symptoms.

However, the course is not the same in all patients. Until now, the molecular basis for explaining it was unknown: many biomarkers have been described for various neurodegenerative diseases, but for none of them was a specific correlation with ALS found.

Now, the shared work of several clinical research centres, coordinated by Antonio Musarò and Irene Bozzoni, of Sapienza University of Rome and the Istituto Pasteur-Italia laboratory in collaboration with Istituto Italiano di Tecnologia (IIT)  has led to the identification of potential prognostic biomarkers of ALS. These microRNA (miRNA) molecules do not contain information for protein formation, but are often altered in certain pathological conditions and may also be released into the bloodstream.

In this study, published in Cell Death Discovery, five miRNAs were selected and quantitatively analysed every three months during disease progression. The results showed that these molecules appear to be predictive of disease progression. “Our study is the first to quantify the miRNAs circulating in ALS patients during disease progression, thus allowing us to give a prognostic significance to three of the five molecules studied,” says Antonio Musarò, “and represents a basis from which to develop serological tests for the assessment of these molecules in people with ALS”.

“An excellent integration of expertise between research and clinic”, adds Irene Bozzoni.

“Quantifying the levels of these molecules”, continues Musarò, “could be a valuable aid for the clinical management of these patients. The microRNAs we analysed seem to be the molecular signature of ALS, and using their serum levels to subdivide patients according to aggressiveness and speed of disease progression may help to enrol them in clinical trials more precisely, in relation to a specific molecular signature”.

The study was partially supported by the Fondazione Roma, ASI, ARiSLA, ERC, and the involved research centres’ projects.



A longitudinal study defined circulating microRNAs as reliable biomarkers for disease prognosis and progression in ALS human patients – Gabriella Dobrowolnyj, Julie Martone, Elisa Lepore, Irene Casola, Antonio Petrucci, Maurizio Inghilleri, Mariangela Morlando, Alessio Colantoni, Bianca Maria Scicchitano, Andrea Calvo, Giulia Bisogni, Adriano Chiò, Mario Sabatelli, Irene Bozzoni & Antonio Musarò – Cell Death Discovery, 2021.


Further Information

Antonio Musarò
Department of Anatomical Histological Medical Legal Sciences and Locomotor Apparatus




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