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Suffering from progeria, or Hutchinson-Gilford syndrome, the Italian Sammy Basso had long passed the vital prognosis linked to his illness and gathered numerous fans on his networks. He died Saturday evening surrounded by his loved ones.
He was, so to speak, the “oldest” patient suffering from progeria, this disease which results in premature aging. Sammy Basso, a 28-year-old Italian, died on Saturday evening after feeling unwell at a restaurant, during an evening with his friends, according to Italian media.
An ambassador of the disease dies
Born on December 1, 1995 in northern Italy, Sammy Basso was one of the rare people affected by Hutchinson-Gilford syndrome in the world and undoubtedly one of the most representative, as he worked for this orphan disease.
In 2021, continuing his studies, he specialized in molecular biology, hoping to clarify for himself the relationship between inflammation and progeria. Very active on social networks, he was also followed by more than 72,000 people on Instagram.
His death sparked a wave of tributes in Italy and elsewhere this Sunday. “Sammy Basso was an extraordinary example of courage, faith and positive spirit. He faced every challenge with a smile, proving that strength of soul can overcome any obstacle.”wrote the head of the Italian government, Giorgia Meloni, on X.
What is Progeria?
Progeria, (from the Greek geron, which means “old man”) or Hutchinson-Gilford syndrome, is a rare condition, “autosomal dominant and fatal, characterized by premature aging beginning during childhood” indicates the Orphanet website, dedicated to orphan diseases.
From what we know today, this rare disease is caused by a mutation in the gene called LMNA located on chromosome 1. This gene normally codes for lamin A and C proteins. When the mutation occurs, this gene produces a truncated protein, called progerinwhich remains anchored in the membrane of the cell nucleus, accumulates there, and ultimately leads to its deformation and dysfunction.
“Although they are born healthy, children with Progeria begin to exhibit many characteristics of accelerated aging during the first two years of life,” indicates the Progeria Research Foundation.
Already at ten years old, affected children therefore have the appearance of very old people. Signs of progeria include stunted growth, loss of body fat and hair, aging skin, joint stiffness, hip dislocation, widespread atherosclerosis, cardiovascular (heart) disease, and stroke.
Only 12 years of life expectancy
Individuals affected by progeria are rare. They usually do not exceed 125 centimeters and weigh no more than 25 kilograms. They also “a remarkably similar appearance despite different ethnic origins”adds the Progeria Research Foundation. Their life expectancy is estimated at 12-13 years on average and their death is often caused by atherosclerosis or stroke.
In 2009, according to Inserm, there were only 3 cases in France, 25 in Europe and around a hundred worldwide. The Progeria Research Foundation puts forward the slightly higher figure of 400 children suffering from this disease.
Today, various clinical trials are underway to combat this disease, notably the combination of statins (a substance indicated in the prevention of cardiovascular risks) and amino-bisphosphonates (particularly prescribed for osteoporosis) which could reduce the symptoms. of the disease. Gene therapy is also a promising avenue of research.
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