A new ALS study offers new insights into early detection of the disease’s genetic forms

On the occasion of World ALS Day, Dr. Delia Gagliardi, a neurologist specializing in neuromuscular and motor neuron diseases at the Policlinico di Milano, and Dr. Claudia Alberti, a neurology resident involved in research on neuromuscular and motor neuron diseases, share the commitment we carry out every day in the care and research of Amyotrophic Lateral Sclerosis.

ALS is a progressive neurodegenerative disease that affects motor neurons, the nerve cells responsible for controlling voluntary movements. As the disease progresses, fundamental functions such as walking, speaking, swallowing, and breathing can become increasingly difficult. For this reason, alongside the clinical care of people living with the disease, we work to understand the mechanisms that cause it and to develop increasingly effective tools to diagnose and treat it.

On this very occasion, we are sharing the results of an important study published in the international journal Annals of Neurology, conducted by researchers from the “Centro Dino Ferrari” of the University of Milan – Policlinico Hospital, in collaboration with University College London.

The research analyzed the genetic data of approximately 470,000 individuals included in the UK Biobank, one of the largest collections of clinical and genetic data in the world, with the goal of better understanding the prevalence of pathological variants of the SOD1 gene, which is responsible for the second most frequent genetic form of ALS in Europe.

The results showed that mutations of this gene could be significantly more frequent than suggested by the clinical data available today. Researchers identified over one hundred people carrying pathogenic SOD1 variants, most of whom did not yet show symptoms of the disease. This suggests that the number of individuals genetically predisposed to develop a form of ALS associated with SOD1 may be higher than previously estimated.

This is a particularly important result because today, for forms of ALS associated with SOD1 gene mutations, targeted therapies are available. Better understanding the prevalence of these genetic variants and identifying people at risk early could facilitate increasingly timely and personalized interventions.

The study also highlighted the potential role of certain measurable blood biomarkers, such as neurofilaments, which could help identify subjects who are beginning to develop the disease and monitor its progression.

This research is part of a broader program of studies we are conducting on ALS and motor neuron diseases. From cellular models obtained directly from patients to the study of biomarkers and the genetic causes of the disease, our goal is to transform scientific knowledge into more timely diagnoses and new treatment opportunities.

ALS remains a complex challenge, but every advance in research brings us closer to an increasingly deep understanding of the disease and more effective treatments for the people affected by it.

To delve deeper into the study results and the contribution of our Center’s research, read the complete publication.:  High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis