The St. Louis School of Medicine in Washington (USA), the Broad Institute of MIT ( Massachusetts Institute of Technology ) and other international entities have located for the first time 15 mutations in the NPC1L1 gene , all of them associated with a reduction of the so-called cholesterol “Bad” or LDL, as well as to protect against the risk of suffering acute myocardial infarction.
The researchers analyzed the genetic characteristics of more than 110,000 people, discovering that these rare mutations, which only 1 in 650 people have (and which occur naturally), contained a peculiarity: the NPC1L1 gene is responsible for manufacturing the protein of the same name. , whose mission is to absorb cholesterol from the food with which we nourish ourselves every day in the intestine.
“The work consisted of looking for mutations that inactivated this gene , that is, that the protein manufactured was not active and therefore less cholesterol was absorbed in the intestine and thus decreased the LDL cholesterol that circulates in the blood”, explains Jaume Marrugat, study co-author.
“ People with any of these mutations had about 12 milligrams per deciliter less LDL cholesterol compared to people without any mutation. The presence of any of these mutations was associated with approximately half the risk of suffering a myocardial infarction ”, clarifies Marrugat.
The study, which has been published in The New England Journal of Medicine , sees enormous potential in this discovery, since it is much easier to develop drugs that inactivate a gene than to activate it.
