卵磷脂胆固醇酰基转移酶缺陷症LCATG179R突变的初步研究

 目的 研究1个新近发现的卵磷脂胆固醇酰基转移酶(LCAT)突变型LCATG179R对其编码蛋白正常功能的影响。方法 构建LCAT cDNA野生型和突变型表达载体，通过在HEK293细胞中瞬时表达，测定细胞合成的LCAT的活性,并通过实时定量PCR测定内质网应激相关基因的表达情况。结果 成功构建载体，野生型LCAT酶活力明显高于突变型LCATG179R，且表达突变型LCATG179R的细胞的内质网应激相关基因表达量明显升高。结论 LCAT突变型G179R会导致该酶的活力降低，可能与该突变型蛋白的异常结构有关。携带此种基因突变的患者有患LCAT缺陷症的可能。

One Novel Mutation (G179R) in LCAT Can Cause the Inactivity of the Enzyme

Objective To study the function of G179R,a novel mutation,in lecithin-cholesterol acyltransferase(LCAT).Methods LCAT cDNA expression vectors were constructed.With transient expression in vitro,the enzyme activity of LCAT was detected.Endoplasmic reticulum stress(ER stress) related gene was detected by Real-time PCR.Results LCAT cDNA expression vectors were constructed successfully.Enzyme activity of mutant LCAT was significantly decreased.ER stress related gene expression was significantly decreased in cells which were transfected with mutant LCAT.Conclution Mutant LCAT(G179R) can cause the inactivity of the enzyme,which may cause the dysfunction of the enzyme and clinically cause the LCAT deficiency.