What is progeria, the very rare disease that Sammy Basso had

He was considered the longest-living patient in the world: the news of Sammy Basso’s death has put the spotlight back on progeriaa very rare disease whose scientific name is Hutchinson-Gilford syndrome. Sammy had made the country aware of the pathology he suffered from and his commitment to scientific research.

What is progeria

Progeria, or Hutchinson-Gilford syndrome, is an extremely rare genetic disease characterized by premature and accelerated aging in children. A pathology that manifests itself from the first years of life and leads young patients to show physical signs typical of aging at a very young age, such as hair loss, thin and wrinkled skin and stiffness of the joints. Although their cognitive and intellectual development remains normal, children with progeria have an appearance that resembles that of older people, while maintaining a lively childlike personality. The disease affects approximately one in 4 to 8 million children worldwide.

The causes

Progeria is mainly caused by a genetic mutation in the LMNA gene, responsible for the production of a protein called lamin A. This protein is essential for the stability of the cell nucleus and the correct function of cells. In progeria, the mutation produces an abnormal form of lamin A, called “progerin”, which leads to cell degeneration and, consequently, symptoms of premature aging. The mutation occurs randomly, and is not inherited from parents. In fact, most cases of progeria are sporadic and result from a new mutation that occurs at the time of conception.

Life expectancy and treatments

Unfortunately, the life expectancy of people with progeria is low. Most patients do not survive adolescence and die around 14-15 years of age, usually due to cardiovascular complications such as heart attacks or strokes, typical of elderly people. However, scientific research has made some progress in recent years. To date, there is no definitive cure for progeria, but there are experimental treatments that aim to slow the progression of the disease. One of the most promising drugs is lonafarnib, a farinasyltransferase inhibitor, which has been shown to improve patients’ quality of life and extend their life expectancy. Other approaches being studied include gene therapy and stem cell transplantation. However, a definitive cure remains far away, and management of the disease mainly focuses on controlling symptoms and cardiovascular complications.