Incidence of lipoprotein lipase genotype for premature termination codon (Ser447-Ter) in Japanese, and association with dyslipoproteinemia.

Lipoprotein lipase (LPL) plays a central role in triglyceride metabolism through catabolism of triglyceride-rich lipoprotein particles such as chylomicrons and very low density lipoproteins (VLDL). A decrease in this enzyme activity provokes gross hypertriglycendemia, and type I hyperlipoproteinemia [1,2]. The decreased enzyme activity can be caused by genetic defects within coding region of the LPL gene, leading to catalytically insufficient protein [3–5] or a defect of enzyme protein [6,7]. 447 A truncated enzyme (Ser -Ter) lacking the two carboxyl terminal amino acids, is a consequence of a C–G transversion at nucleotide 1595 in exon 9 of LPL gene, converting the serine 447 codon (TCA) to a premature termination codon (TGA) [5,8,9]. The roles of this genotype in the plasma lipoprotein levels have been investigated by several authors. Stocks et al., [10] and Mattu et al.,