They identify the key cells to prevent atherosclerosis in progeria

2024-04-22 22:34:29

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease that affects 1 in 20 million people – it is estimated to affect less than 400 children worldwide – and is characterized by inducing accelerated aging, severe atherosclerosis and premature death at an average age of approximately 15 years. Although HGPS patients usually do not have the typical cardiovascular risk factors (hypercholesterolemia, obesity, smoking, etc.), their main cause of death is complications of atherosclerosis, such as myocardial infarction, stroke or heart failure. Given that there is currently no cure for progeria, it is urgent to develop new therapies that prevent atherosclerosis and other vascular alterations associated with the disease to increase the life expectancy of patients.

The Genetic cause of HGPS is a mutation in the LMNA gene which causes the expression of progerin, a mutant version of the nuclear protein lamin A that induces numerous harmful effects at the cellular and organism level.

Recent studies carried out in animal models of this syndrome have shown that it is possible to correct this mutation through gene editing, and that the consequent elimination of progerin and recovery of lamin A expression improves the characteristic alterations of HGPS and prolongs life expectancy.

Now, a team of researchers from the National Center for Cardiovascular Research (CNIC) have discovered that the elimination of progerin in vascular smooth muscle cells, but not in endothelial cells, can prevent atherosclerosis associated with progeria syndrome.

Using animal models, the researchers found that depletion of progerin in vascular smooth muscle cells may be an effective therapeutic strategy.

The findings suggest that correcting the HGPS-causing mutation in vascular smooth muscle cells could provide significant therapeutic benefit, which could lead to more effective and safer future clinical applications. This could represent a crucial advance in the treatment of this rare genetic disease, which currently lacks a cure..

In addition, researchers highlight the importance of researching rare diseases, such as progeria, which affect a small number of patients but represent a large-scale health-social problem. This study offers hope for improving the quality of life and life expectancy of patients with HGPS, as well as advancing the development of more effective and safer therapies in the future.