Progeria, known for its accelerated aging, represents one of the rarest genetic diseases in the world. The case of Sammy Basso, a young man suffering from this pathology, brings to light the challenges and hopes in the field of scientific research and social support.
Progeria affects one person in every 8 million births, with a global incidence of one person in 20 million. This fact makes it an extremely rare disease, described for the first time in 1886 by Jonathan Hutchinson and subsequently from Hastings Gilford in 1897, from whom the disease takes its name. Those living with progeria often have a limited life expectancy, generally between 14 and 15 years. Many of these young patients lose their lives due to cardiovascular complications, such as heart attacks or strokes, which characterize the symptoms of the disease.
This genetic disease, unfortunately, causes premature aging, evidenced by significant physical changes such as hair loss, bone problems and skin abnormalities. According to what was reported byItalian Progeria Association Sammy Basso Onlusprogeria is caused by a point mutation in the gene LMNAwhich produces a toxic protein called progerin. The latter alters the structure of the cell nucleus, causing rapid deterioration of cells and, consequently, of tissues and organs.
The daily difficulties of those living with progeria
The clinical manifestations of progeria include a variety of debilitating symptoms. Patients face problems of osteoporosis, arthritis and joint defects, which result in frequent dislocations. Furthermore, the disease leads to a condition known as generalized lipodystrophywith growth delays and skin abnormalities. The effects on the cardiovascular system are particularly serious: patients can suffer from vascular occlusions, heart valve stenosis and, in some cases, heart attacks. Quality of life is compromised, with an average lifespan of only 13.5 years without any treatment.
Currently, there are an estimated 130 cases of classic progeria (HGPS) recognized worldwide, of which four are in Italy. However, the real number of people affected by this disease could be around 350 cases, partly due to the difficulty in tracing patients, especially in developing countries. The statistics remain imprecise and pose a significant challenge to the scientific community and organizations that support research.
New hopes through scientific research
A small group of researchers, including the Dr. Francis Collinsformer director of National Institutes of Healthis working on an innovative project by gene editing to deal with progeria. This approach aims to slow or stop the progression of the disease and could represent hope not only for patients suffering from progeria, but also for those suffering from other rare genetic diseases, often overlooked by pharmaceutical companies.
However, Dr Kiran Musunuruexpert in gene editing at theUniversity of Pennsylvaniawarns of the risks associated with these techniques. Although gene editing has shown promising results in animal models, there is no guarantee that it will be successful in human patients. The scientific community is therefore preparing for a crucial period, where the hopes of change and improvement in living conditions for patients suffering from progeria depend on the success of these experiments.
The fight against progeria continues, as research advances and the patient community seeks to make its voices heard. The stories of young people like Sammy Basso represent a symbol of resilience and determination, drawing attention to a disease that deserves to be known and understood.
