Fifteen mutations in the NPC1L1 gene, related to a reduction in "bad" or LDL cholesterol, and also with the risk of suffering myocardial infarction, have been located by researchers from the St. Louis School of Medicine in Washington (USA), the MIT Broad Institute (Massachusetts Institute of Technology) and other international entities. The NPC1L1 gene makes the protein of the same name, which is responsible for absorbing cholesterol.
To make such a finding, which has been published in the magazine The New England Journal of Medicine, the genetic traits of more than 110,000 individuals were analyzed, noting that these mutations are clearly unusual: only 1 in 650 people had them.
As he explains Jaume Marrugat, co-author of the study:
The work consisted of looking for mutations that inactivated this gene, that is, that the manufactured protein was not active and therefore less cholesterol was absorbed in the intestine and thus decreased LDL cholesterol that circulates in the blood (...) People with some 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 having a myocardial infarction.
The results of this study will mark the targets to which we should direct the drugs. According Roberto Elosua, researcher at the Hospital del Mar Institute for Medical Research (IMIM):
The results of our study suggest that blocking the NCP1L1 protein, as the drug ezetimibe does, may be a good strategy not only to reduce LDL cholesterol but also to prevent myocardial infarction. However, the big difference that can influence the effectiveness of the treatment versus the mutation lies in the fact that the identified mutations exert their action from birth and throughout life, while the drug is used only in case of need in adulthood and, therefore, for a shorter period of time.