Researchers at the Hospital Santa Creu i Sant Pau in Barcelona and Sant Joan de Reus, led by Francisco Blanco-Vaca and Juan Carlos Escolà-Gil, of the IIB Sant Pau and the CIBER of Diabetes and Associated Metabolic Diseases (CIBERDEM) have identified the Mechanisms for which lipoproteins that transport good cholesterol (HDL) lose their cardioprotective capacity in patients with family hypercholesterolemia.
The work, in collaboration with Finnish researchers, has been published in the Journal of the American College of Cardiology and shows that patients with familial hypercholesterolemia exhibit alterations in the activities of the main enzymes involved in the maturation of HDLs, which causes alterations in its composition and a reduction in its main cardioprotective function, its ability to prevent the accumulation of cholesterol in the macrophages of the arterial wall.
Lídia Cedó, the first signatory of the work, indicates that these findings “also found teenagers with family hypercholesterolemia, a very common disorder that affects more than 100,000 people in Spain, which affects the need for an early diagnosis that allows starting treatments Early men who reduce the risk of myocardial infarction in the future. ”
Family hypercholesterolemia is a disorder inherited mainly by mutations in the gene of the low density lipoprotein receptor and characterized by high levels of low density lipoprotein, which are often associated with low levels of HDL.
In the study, researchers Núria Plana and Lluís Masana from the Sant Joan de Reus University Hospital, CIBERDEM, José Luis Sanchez-Quesada from IIB Sant Pau (CIBERDEM), Miriam Lee-Rueckert and Petri Kovan from the Wihuri Research Institute and Matti Jauhiainen del Minerva Foundation Institute for Medical Research, all of them in Helsinki.
Altered HDL Remodeling and Functionality in Familial Hypercholesterolemia. Cedó L, Plana N, Metso J, Lee-Rueckert M, Sanchez-Quesada JL, Kovanen PT, Jauhiainen M, Masana L, Escolà-Gil JC, Blanc-Vaca F. DOI: 10.1016 / j.jacc.2017.11.035