SLA, discovered a biomarker for early diagnosis. The first signs of amyotrophic lateral sclerosis visible years in advance

A few years after the discovery of a cure for the bearers of the SOD1 genetic mutation – Responsible for about 2% of the approximately 168 thousand estimated cases of in the world – a new, important step forward sees among its protagonists the researchers of Turin engaged in the study of the amyotrophic lateral sclerosis (SLA).
This time, the discovery concerns The early diagnosis of the most serious neuromuscular disease that can affect the nervous system and comes from an international study coordinated by Professor Adriano ChiòDirector of Neurology 1 University of the City of Health and Science of Turin – Molinette Hospital, and by Professor Andrea Calvoneurologist of the same structure, in collaboration with the National Institutes of Health (Nih) of the United States. The research results have just been published on the prestigious international scientific journal Nature Medicine.

More early and accurate diagnosis thanks to the AI

The researchers identified in the blood A set of proteins that could represent a reliable biomarker to identify SLA in its initial stages. The discovery is based on one avant -garde technology in the field of proteomicscalled Olink Explore 3072, which allows you to measure the concentration of over 3,000 proteins circulating in the plasma with extreme precision.
The study involved an initial cohort of 183 patients with SLA and 309 healthy people. Using the Olink platform – which uses a system based on antibodies combined with DNA probes to detect even minimal variations in the presence of proteins – researchers identified 33 proteins whose levels are significantly altered in the blood of patients compared to healthy people.
The validity of the result was confirmed through a replication analysis in a second independent cohort, strengthening the solidity of the scientific data.
Subsequently, thanks to the use of advanced artificial intelligence models (Machine Learning), An algorithm has been developed capable of distinguishing between healthy subjects and SLA patients with an accuracy of 98.3%.

The first signals of SLA years in advance

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An important fact that emerged from the study concerns the possibility of detecting signs of the disease also several years before the appearance of clinical symptoms. Analyzing blood samples taken from people who, later, would develop the SLA, The researchers observed indicative protein alterations of a pathological process already underway even if in the very initial phase. This process mainly involves muscles, motorbikes And energy metabolismsuggesting that the disease has a long and silent preclinical phase, during which it may become possible before the irreversible damage.
“These results represent a real turning point: for the first time we have a potential tool not only to improve and accelerate the diagnosis of ALS, but also to identify it in a very early phase, allowing to intervene in a more immediate and more targeted way”, explains Professor Adriano Chiò.

What prospects?

This research opens completely new scenarios in the field of ALS: with a preclinical diagnosis, which it could allow a more timely taking chargeat the use of existing pharmacological and non -pharmacological therapieswhose effectiveness is certainly greater if they are more early at the beginning of the disease, to the development of new treatments, oriented to slow down or even prevent the progression of the disease.
“This international study with the city of health and science (CDSS) leads confirms what are the enormous potential of our hospitals and our professionals recognized worldwide are only from a clinical welfare point of view, but also from the research point of view”, commented Thomas Schael, Cdss Commissioner. “This must be a reason for pride for Piedmontese health and a starting point of what the future park of health, research and innovation will be”.