Sammy Basso’s death on Saturday has sparked new interest in progeria, the extremely rare genetic disease that causes premature aging, reducing the life expectancy of those affected. Basso would have turned 29 in December and died on October 5, after dedicating an important part of his life to making his illness known, and to disseminating its effects and research to treat it more effectively.
Progeria, or more precisely Hutchinson-Gilford disease (HGPS), affects very few people in the world, to the point that it is difficult to quantify how frequently it occurs in the population. It is estimated that there is one case for every 20 million births and in 2024 the Progeria Research Foundation, one of the main organizations dealing with the disease, detected 151 cases in 48 countries. The disease has been known for almost a century and a half and since then hundreds of cases have been reported, although it is not always possible to diagnose it with certainty and in time to start therapy to alleviate the symptoms.
Premature aging caused by progeria is due to the mutation of a gene (LMNA or Laminin A), which contains within itself the information to enable the organism to produce lamin A, a protein which has a very important role in keep the cell nucleus intact and stable. The mutation causes the production of a defective lamin A, called progerin, which makes the cell nucleus unstable, where the genetic information fundamental for cell multiplication is contained. Cells fail to divide or do so incorrectly, with errors and mutations in the genetic material, leading to a premature aging process that affects health.
It is not yet clear what causes the mutation in the LMNA gene that leads to progeria, but it is believed to be a random event that occurs in the early stages of conception. Although the number of cases is very limited, to date there are no clear indications to believe that one of the parents is a carrier of the genetic mutation and that it is therefore hereditary. In fact, the mutation seems to occur spontaneously and does not derive directly from the parents. However, it is still a debated aspect, also because in the past a recurrence among siblings has been reported for some cases of progeria.
A baby with progeria usually shows no symptoms at birth, with signs of the syndrome starting to become apparent during the first year of life. Parents or medical personnel notice this by noticing poor growth in the child and abnormal hair loss. Since it is an extremely rare disease, diagnosis can take some time and the disease is not always identified immediately, due to its limited diffusion and the little knowledge about some of its characteristics.
To date, there is no real therapy against progeria and medical activity focuses above all on reducing its effects, which primarily concern the cardiovascular system. Premature aging leads above all to greater stiffness and thickening of the blood vessels, with the appearance of diseases typical of old age such as atherosclerosis, but in children and adolescents. Blood flow to vital organs is reduced and this further promotes the aging and wasting processes.
Most people with progeria die from complications of atherosclerosis such as heart failure, heart attack, and stroke. For this reason, those who have the disease are usually prescribed drugs such as low-dose aspirin to prevent heart attacks, or the use of anticoagulants to reduce the risk of blood clots forming or statins, to lower cholesterol levels.
Estimating the average life expectancy for a person suffering from progeria is not easy, both due to the small number of cases diagnosed each year and the great variability in the outcomes of the condition for each patient. In general the average life expectancy is around 13 years, but there may be several cases in which a person manages to live longer. Sammy Basso died at almost 29 years old, becoming one of the longest-living cases of progeria.
The syndrome has the characteristic of not significantly affecting mental abilities, just as it does not cause other disorders typically linked to aging. The disease rarely causes arthritis, vision problems or an increased risk of cancer, although much depends on the individual patient and the age they reach.
Although it is an extremely rare disease, progeria is being carefully studied because it could offer new elements for understanding the mechanisms of aging in the general population. Research has focused mainly on the LMNA gene to try to understand what triggers the mutation that then leads to the disease. Clinical studies have also been started on the use of some drugs developed for the treatment of forms of cancer, which have shown some positive results when used with people with progeria. In addition to that induced by the gene mutation, there are some diseases that manifest themselves with disorders similar to HGPS, such as atypical progeroid syndrome and congenital progeroid syndrome, which are still being studied.
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