Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations

S Mott, L Yu, M Marcil, B Boucher, C Rondeau… - Atherosclerosis, 2000 - Elsevier
Background. High density lipoproteins (HDL) are complex lipoprotein particles involved in
reverse cholesterol (C) transport and are negatively associated with the risk for coronary
artery disease (CAD). We have described a disorder of familial HDL deficiency (FHD) due to
abnormal cellular cholesterol efflux. In the present study, we investigated cellular cholesterol
efflux on skin fibroblast from 15 probands with moderate to severe
hypoalphalipoproteinemia, including one subject with Tangier disease (TD). We performed …