Hutchinson-Gilford progeria syndrome
Hutchinson-Gilford syndrome (HGPS), also known as infantile progeria, is a rare genetic disease characterized by premature aging that begins in infancy.
The phenotypic features of this syndrome are caused by alterations in lamin protein A, an important fibrillar component that maintains the structure of the nucleus and participates in chromatin organization.
Children with progeria have a point mutation in the LMNA gene that results in an abnormal form of farnesylated lamin A, called progerin, which contributes to premature aging.
In the normal protein this farnesyl group is removed, but in progeria this step does not occur, and progerin remains bound to the inner nuclear envelope, leading to alterations in nuclear morphology and functionality.
Some promising therapeutic trials have proposed the use of several drugs that inhibit progerin farnesylation to reverse the deleterious effects of progerin synthesis.
Some studies have determined that progerin is also produced in healthy individuals and increases with age, which may provide insight into the normal aging process.
This article will discuss the main aspects of HGPS, as well as its characteristics, its symptoms, its genetic basis and how it has driven the discovery and development of strategies for the treatment of the disease.
Progeria Research
In 1998, Drs. Leslie Gordon and Scott Berns established the Progeria Research Foundation (PRF) after being confronted with their 22-month-old son Sam’s diagnosis of HGPS.
The lack of information about the disease, the absence of treatment and the lack of scientific research aimed at discovering the causes of the syndrome and a potential cure motivated the doctors and a group of colleagues to found the PRF.
This organization, unique in the world, conducts research on progeria, promotes awareness of the disease and raises funds for research projects.
