Key cells identified to prevent atherosclerosis in rare disease

An international team of researchers has identified the key cells to prevent atherosclerosis in people suffering from Progeria syndrome, a very rare disease that causes premature and accelerated aging in those who suffer from it.

The disease is characterized by induce accelerated aging, severe atherosclerosis and premature death at an average age of approximately 15 years.

You results of the new investigation were published this week in The Proceedings of the National Academy of Sciences (PNAS) and scientists from the National Center for Cardiovascular Research (CNIC) of the Instituto de Saúde Carlos III, the Center for Network Research on Cardiovascular Diseases, the Center for Biological Research Margarita Salas participated in the study of the Superior Council for Scientific Research, of the University of Oviedo (all in Spain) and Queen Mary University of London (United Kingdom).

To the rare deseases represent a major social and health problem, as it is estimated that there are close to 7,000 and they affect seven percent of the world’s populationrecalled the CNIC, cited by the Efe agency.

Although patients with this syndrome usually do not present typical cardiovascular risk factors (hypercholesterolemia, obesity or smoking), its The main cause of death is complications of atherosclerosis, such as myocardial infarction, stroke or heart failure.

There is currently no cure for Progerianoted the CNIC, and emphasized the urgency of developing new therapies that prevent atherosclerosis and other vascular changes associated with the disease to increase the life expectancy of patients.

Therapy and genetic cause

The genetic cause of the disease is a mutation in a gene (LMNA) that causes the expression of progerin, a mutant version of the nuclear protein “lamin A” that induces numerous harmful effects at the cellular and organismal level, explained the CNIC in a statement.

Recent studies of this syndrome carried out in animal models have shown that It is possible to correct this mutation through gene editingand that the consequent elimination of progerin and recovery of “lamin A” expression improves the characteristic changes of the disease and prolongs life expectancy.

To optimize gene therapy for the potential treatment of patients with Progeria, it is important identify the cell types in which progerin deletion produces the most benefits.

To answer this question, the laboratory of researcher Vicente Andrés (CNIC) generated mice with this syndrome and the researchers pointed to vascular smooth muscle cells as a possible therapeutic target to combat premature atherosclerosis in Progeria.

Atherosclerosis can be prevented by suppressing progerin

In new work published by PNAS and using the same types of mice, researchers studied whether the atherosclerosis associated with this syndrome can be prevented. suppressing progerin and restoring “lamin A” in “endothelial” cells or vascular smooth muscle cells.

Scientists thus discovered that eliminating progerin in endothelial cells did not bring any benefit, but it did when it was eliminated in vascular smooth muscle cells.

With agencies Lusa and Efe