Inactivating mutations in NPC1L1 and protection from coronary heart disease.

Publication Type:

Journal Article

Source:

The New England journal of medicine, Volume 371, Issue 22, p.2072-82 (2014)

Keywords:

Adult, African Continental Ancestry Group, Asian Continental Ancestry Group, Case-Control Studies, Cholesterol, LDL, Coronary Disease, European Continental Ancestry Group, Exons, Female, Gene Silencing, Genotype, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Protein Conformation, RISK, Sequence Analysis, DNA, Triglycerides

Abstract:

Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.