2023 年第 3 期 第 18 卷

脂肪酶家族基因致病机制的研究进展

Research progress of pathogenic mechanism of lipase family genes

作者：孟诗睿1刘思珩1蔺洁2

英文作者：Meng Shirui1 Liu Siheng1 Lin Jie2

单位：1南昌大学玛丽女王学院，南昌330006；2首都医科大学附属北京安贞医院内分泌代谢科，北京100029

英文单位：1Queen Mary School Nanchang University Nanchang 330006 China; 2Department of Endocrinology and Metabolism Beijing Anzhen Hospital Capital Medical University Beijing 100029 China

关键词：家族性高胆固醇血症；脂肪酶家族基因；致病机制

英文关键词：】Familialhypercholesterolemia;Lipasefamilygenes;Pathogenicmechanism

• 摘要：

• 家族性高胆固醇血症（FH）是一种罕见的常染色体显性遗传疾病，常见致病基因包括低密度脂蛋白受体、载脂蛋白B、前蛋白转化酶枯草溶菌素9等，但并不能完全解释FH患者的病因。随着基因测序技术的发展，发现脂肪酶家族基因突变与多种疾病有关，部分患者表现出FH样症状，提示脂肪酶家族基因参与了三酰甘油及胆固醇等脂代谢过程。本文主要就脂肪酶家族基因致病机制的研究进展进行综述。

• Familial hypercholesterolemia (FH) is a rare autosomal dominant inherited disease. The common pathogenic genes including low-density lipoprotein receptor, apolipoprotein B, preprotein convertase subtilis/Kexin type 9 and so on， but they can not explain the etiology of all FH patients. With the development of gene sequencing technology, lipase family gene mutations are found to be related to a cariety of diseases and some patients have FH-like symptoms. It is suggest that lipase family genes are involved in the lipid metabolism of triacylglycerol and cholesterol. This paper mainly reviews the research progress of pathogenic mechanism of lipase family genes.