'Guardian Of The Genome' Gene Protects Against Cardiovascular Diseases, Scientists Find
Scientists have found that a gene known as the "guardian of the genome" plays a major role in the development of atherosclerotic cardiovascular disease.
The study, published in the journal Nature Cardiovascular Research, found that acquired mutations in the gene encoding the protein p53 can lead to atherosclerosis, the underlying cause of most cardiovascular diseases.
The research was led by a team at the Centro Nacional de Investigaciones Cardiovasculares (CNIC), working in collaboration with institutes in the U.S.
It is known that p53 gene mutations in blood cells up the risk of developing various types of cancer, such as blood cancers, according to MedicalXpress.
The role of p53 is to maintain the integrity of the DNA inside cells by regulating cell functions against cellular stresses. On any given day, the human adult body produces hundreds of thousands of blood cells. This process, though important, unavoidably increases the chances of mutations in the progenitor cells that produced the blood cells.
In the new study, scientists found a strong association between p53 gene mutations and the appearance of atherosclerosis, a precursor for cardiovascular disease, which causes the most number of deaths globally and also poses a big burden on health care systems.
For the study, scientists analyzed sequencing data from the blood cells of more than 50,000 people.
"We found that carriers of acquired mutations in p53 had a higher risk of developing coronary heart disease and peripheral artery disease, and this effect was independent of established cardiovascular risk factors like hypertension or elevated blood cholesterol," Dr. José Javier Fuster of the CNIC group explained, the outlet reported.
To further analyze their findings, researchers conducted animal studies. The scientists used animal models of atherosclerosis and then introduced cells carrying p53 mutations in their bodies.
Mice carrying these mutations developed cardiovascular disease more rapidly, the study found. The reason for disease progression was largely due to an unusually high proliferation rate of immune cells in the artery walls.
"This combination of observations in humans with experimental studies in animals provides solid evidence that these mutations increase the risk of developing cardiovascular disease," Dr. Valentín Fuster, CNIC General Director, President of Mount Sinai Heart and Physician-in-Chief of The Mount Sinai Hospital and an author on the study, said.
Fuster further said these findings "broaden our knowledge of how the acquisition of mutations in blood cells, a phenomenon called clonal hematopoiesis, acts as a cardiovascular risk factor."
The study showcases that different mechanisms can contribute to cardiovascular disease due to mutations in different genes.
"In the future, this could be exploited to design personalized prevention strategies targeting the specific effects of different mutations," CNIC scientist Nuria Matesanz, co-first author of the study, said.
In other news, a recent study has found that children born via C-section (caesareans) are at a higher risk of developing cardiovascular disease and obesity. "Growing rates of C-sections conducted for non-clinical reasons is a major public health concern that calls for a reduction in the rate of unnecessary C-sections and their associated human and economic costs," co-author Dr. Tahmina Begum from the University of Queensland said.