高甘油三酯血症患者脂蛋白脂酶基因突变的研究进展

Research progress of lipoprotein lipase gene mutation in patients with hypertriglyceridemia

高甘油三酯血症是以甘油三酯合成异常或降解障碍为表现的临床综合征,是发生心血管疾病的独立危险因素。研究发现除生活方式外,遗传因素也决定着血浆中甘油三酯的浓度。脂蛋白脂酶(LPL)是甘油三酯降解的限速酶,在脂代谢、胰岛素抵抗、脂肪细胞分化中有重要作用。近年来,家系分析与全基因组关联分析(GWAS)已经鉴定出与高甘油三酯血症相关的基因,其中包括LPL基因,其发生基因突变后会降低脂蛋白脂酶活性并影响其蛋白的含量,从而导致高甘油三酯血症的发生。本文针对LPL基因的结构、功能、表达调控、常用检测方法及LPL基因突变与高甘油三酯血症关系的研究进行阐述。

Hypertriglyceridemia is a syndrome characterized by abnormal triglyceride synthesis or degradation. High triglycerides is an independent risk factor for cardiovascular disease. Some study found that in addition to lifestyle, such as nutrition and their own activities, the genetic factors also determine the concentration of plasma triglycerides. Lipoprotein lipase is a rate-limiting enzyme for triglyceride degradation, which plays an important role in lipid metabolism, insulin resistance, and adipocyte differentiation. In recent years, family analysis and genome-wide association analysis (GWAS) have identified genes associated with hypertriglyceridemia, including the LPL gene, which mutates to reduce lipoprotein esterase activity and affect its protein content, resulting in hypertriglyceridemia. This paper reviewed the LPL gene structure, function, expression regulation, commonly used detection method and the relationship between LPL gene mutation and hypertriglyceridemia.