The CNIC investigates mutations that arise in blood cells with age.
José Javier Fuster, from the National Center for Cardiovascular Research (CNIC) in Madrid, and his team have detected some genetic mutations in blood and immune cells that could be related to a better or worse prognosis for cardiovascular diseases. Specifically, with the unfavorable progression of heart failure, a pathology in which the heart does not pump blood well.
“Heart failure is the leading cause of hospitalization in people over 65 years of age,” describes Fuster. “We found that the genetic material of blood cells changes as we age, because it mutates throughout life.” Some of these mutations also spread through the immune system, altering its response.
In a recent investigation, Fuster and his team identified a subgroup of these frequent mutations in this disease, closely linked to aging. “Patients with these mutations have an adverse progression of the disease, and a higher mortality rate,” warns Fuster.
For the researcher, until recently mutations in blood stem cells only seemed relevant to cancer. Today they are also associated with other diseases and aging. “We collaborate with the Germans Trias i Pujol hospital in Badalona and the Virgen de la Arrixaca hospital in Murcia to acquire samples from patients with heart failure and sequence their DNA to detect which mutations are related to the development of the disease”, he explains. “This will give us an idea so that later we know which ones are at higher risk and need more intense medical surveillance.”
Fuster and his team are also investigating how these mutations work in animal models to test therapies that affect their effects and to better understand how age-related cardiovascular diseases develop. Isabel Troytino.