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].
A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia / PRIORE OLIVA, Claudio; Tarugi, Patrizia Maria; CALANDRA BUONAURA, Sebastiano; L., Pisciotta; A., Bellocchio; S., Bertolini; O., Guardamagna; Fg, Schaap. - In: ATHEROSCLEROSIS. - ISSN 0021-9150. - STAMPA. - 188:1(2006), pp. 215-217. [10.1016/j.atherosclerosis.2006.04.010]
A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia
PRIORE OLIVA, Claudio;TARUGI, Patrizia Maria;CALANDRA BUONAURA, Sebastiano;
2006
Abstract
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].
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