Natural human apoA-I mutations L144R, A164S and L178P alter apoA-I and HDL structure and functionality

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Aim: Naturally occurring point mutations in apoA-I, the major protein constituent of HDL, have been associated with increased risk of cardiovascular events and/or low HDL levels. However, the correlation between potential changes in apoA-I/HDL structure, brought about by the mutation, and changes in apoA-I/HDL functions haven’t been examined. Here we examined how such three natural mutations in human apoA-I (L144R, A164S and L178P) affect the conformational integrity and atheroprotective functions of apoA-I or HDL.