A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia

The APOA5 gene encoding apolipoprotein A-V (a 366amino acid protein), present in minute amounts in VLDL andHDL, appears to be a modulator of plasma triglyceride (TG)homeostasis [1,2]. In apoA5 knock out mice plasma TG levelincreased almost four-fold, whereas in human APO5 transgenicmice it decreased 70% [1]. Some SNPs in the APOA5gene have been associated with differences in plasma TG levelsin the general population [1]. There is robust evidence thatapo A-V accelerates VLDL and chylomicron catabolism byactivating lipoprotein lipase (LPL)-mediated lipolysis [3–7].