Sammy Basso, symbol of the fight against progeria, has died

“Today our light, our guide, went out. Thank you Sammy for letting us participate in this wonderful life“. Thus the Italian Progeria Association Sammy Basso onlus announces his passing. “We gather around his family and friends in respect of the pain in this delicate moment of mourning”, is written on the site. Sammy Basso was born in Schio in 1995, at two years old he was diagnosed with Hutchinson-Gilford progeria.With his parents he founded the Association of which he witnessed from the age of ten. In 2007 he joined the first study group of the PRF (Progeria Research Foundation) clinical trial with Lonafarnib. Basso was known for the many television appearances and interviews he made to raise awareness of the association’s activity and the disease that had affected him. Italy knew him afterhe airing of the National Geographic docu-film entitled “Sammy’s Journey”which tells of his journey along Route 66, in the USA, from Chicago to Los Angeles, with his parents and one of his best friends, Riccardo.

Graduated in Natural Sciences at the University of Padua, with a thesis aimed at demonstrating the possibility of treating progeria with genetic engineering, he underwent surgery to replace his aortic valve and was nominated, in 2019, Knight of the Order of Merit of the Italian Republic. In 2021 he specialized in Molecular Biology and then graduated from the University of Padua with a thesis on the correlation between Progeria and inflammation. Basso was the spokesperson for the association and also worked with the PRF as an International Ambassador.

A very rare disease

The cellular aging and tissue deterioration observed during physiological aging affects many organs and functions simultaneously and progressively. In recent years, the study of human aging has been facilitated by the discovery of mutations in some genes that cause premature aging syndromes. The most important of these are Hutchinson-Gilford progeria syndrome (HGPS) and atypical Werner syndrome, caused by genetic defects in nuclear envelope proteins: knowing them better allows us to understand more about the phenomenon of biological aging.

Research on these topics has also made it possible to establish the direct link between nuclear envelope and DNA repair defects typical instead of other premature aging syndromes such as the classic Werner syndrome, Cockayne syndrome, Bloom syndrome, xeroderma pigmentosum, ataxia telangiectasia , trichothiodystrophy, and dyskeratosis congenita (DKC). The cellular defects that are observed in these and other models of human premature aging, including genomic and proteomic instability, altered metabolism, and loss of regenerative potential, overlap with defects that occur during physiological aging in humans.

Progeria affects one child in every 4-8 million births, both male and female. Also known as Hutchinson-Gilford syndrome (the first to describe it, in 1886, was Jonathan Hutchinson, followed in 1904 by Hastings Gilford). As a result of this rapid and unnatural aging, life expectancy is very low: it usually does not exceed twenty years.

Death occurs mainly due to heart problems or stroke. There are currently no definitive remedies for progeria, but research is making great progress with the aim of slowing down the progression.