Identification of carriers of rare mutations in human SCARB1 and PDZK1 that impair the function of their gene products and characterization of the effects of these mutations on HDL cholesterol levels and atherosclerosis will add to our understanding of the importance of HDL function and cholesterol flux, as opposed to HDL-cholesterol levels, per se, for protection against cardiovascular disease.
Exploration of the structure and function of PDZK1 and the mechanisms by which it controls SR-BI will provide additional insights into HDL metabolism and may provide the basis for new therapeutic modalities for cardiovascular disease.