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目的研究卵磷脂胆固醇酰基转移酶(LCAT)新近发现的1个突变型LCATG179R的功能。方法构建LCATcDNA野生型和突变型表达载体,通过在HEK293细胞中瞬时表达,用蛋白印迹法观察细胞内和分泌蛋白的表达情况。结果成功构建载体,野生型和突变型LCAT在细胞内均有表达,但不同于野生型的是,没有在细胞外检测到突变型LCAT的表达。结论 LCAT突变型G179R不能分泌出细胞,从而有可能造成该酶的功能缺失。携带此基因突变的患者有可能患LCAT缺陷症。
Objective To investigate the function of a newly discovered LCATG179R mutant of lecithin cholesterol acyltransferase (LCAT). Methods The wild type and mutant expression vectors of LCAT cDNA were constructed and transiently expressed in HEK293 cells. Western blotting was used to observe the expression of intracellular and secretory proteins. Results The vector was successfully constructed. Both wild-type and mutant LCAT were expressed in the cells, but unlike the wild-type, the expression of mutant LCAT was not detected extracellularly. Conclusion LCAT mutant G179R can not secrete cells, which may result in the loss of function of the enzyme. Patients with this gene mutation may have LCAT deficiency.