Key cells have been identified to prevent atherosclerosis in progeria syndrome

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

An international team of researchers has identified cells essential for preventing atherosclerosis in people with progeria syndrome, an extremely rare disease that causes premature and accelerated aging in those who suffer from it.

Progeria syndrome is an extremely rare genetic disease that affects 1 in 20 million people, and is estimated to affect about 400 children worldwide.

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

The results of the new research were published on Monday in the journal Proceedings of the National Academy of Sciences (PNAS) and scientists from the National Center for Cardiovascular Research (CNIC) of the Carlos III Health Institute of the Network Research Center participated in the study. Cardiovascular Diseases, Margarita Salas Center for Biological Research of the Supreme Council for Scientific Research, University of Oviedo (all in Spain) and Queen Mary University of London (UK).

Rare diseases represent a major social and health problem, as it is estimated that there are approximately 7,000 diseases and they affect seven percent of the world’s population, according to the National Center for Statistics, quoted by Efe Agency.

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

There is currently no cure for premature aging, the CNIC noted, and stressed the urgent need to develop new treatments that prevent atherosclerosis and other vascular changes associated with the disease to increase the life expectancy of patients.

The genetic cause of the disease is a mutation in the gene (LMNA) that causes the appearance of progerin, which is a mutant version of the nuclear protein “Lamin A” that causes many harmful effects at the cellular and organic levels, as the National Cancer Center explained in a report. statement.

Recent studies of this syndrome conducted on animal models have shown that it is possible to correct this mutation through gene editing, and that the consequent elimination of progerin and restoration 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 to identify the cell types in which progerin deletion produces the greatest benefit.

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

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

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