Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach.

Conclusion: This in-silico study suggests that p.Leu167del is causing the protein APOE to associate strongly with its receptor, LDLR. This gain-of-function is likely hindering the ability of LDLR to be effectively recycled back to the surface of the hepatocytes to clear cholesterol from the circulation therefore leading to FH. PMID: 29204218 [PubMed]

https://www.ncbi.nlm.nih.gov/pubmed/29204218?dopt=Abstract

Source: Open Cardiovascular Medicine Journal - December 6, 2017 Category: Cardiology Tags: Open Cardiovasc Med J Source Type: research