中国全科医学2024，Vol.27Issue(36)：4498-4504,7.DOI:10.12114/j.issn.1007-9572.2024.0126
分子生物技术在家族性高胆固醇血症诊疗中的进展
Advances in Molecular Biotechnology for Diagnosing and Treating Familial Hypercholesterolemia
摘要
Abstract
Familial hypercholesterolemia(FH)is an inherited disorder of lipid metabolism characterized by significant elevation of low-density lipoprotein cholesterol,increasing the risk of atherosclerotic cardiovascular disease and causing serious consequences for FH patients and the whole society.The development of molecular biotechnology is crucial for screening,diagnosing,and treating patients with FH.This paper systematically summarizes how the development of genetic testing technologies,particularly next-generation sequencing,has improved the accuracy of diagnosis and efficiency of genetic screening for FH,while also introducing many variations of unknown significance.In contrast to pharmacotherapy,transgenic technology and gene editing technology offer the potential to rectify the molecular aberration within the patient's physiological system,holding promise for eradicating FH at the molecular level.However,preliminary results have shown that patients could suffer from side-effects,such as liver damage,and long-term follow-up is needed to clarify the efficacy of these technologies.Therefore,this article reviews the latest advances in molecular biotechnology,including genetic testing technology and gene therapy technology,in the diagnosis and treatment of FH,aiming to provide new perspectives for FH related research.关键词
高胆固醇血症/基因检测/遗传筛查/基因编辑Key words
Hypercholesterolemia/Genetic testing/Genetic screening/Gene editing分类
医药卫生引用本文复制引用
张硕,张龙,张岩,李建平..分子生物技术在家族性高胆固醇血症诊疗中的进展[J].中国全科医学,2024,27(36):4498-4504,7.基金项目
国家重点研究计划(2021YFC2500600,2021YFC2500601) （2021YFC2500600,2021YFC2500601）
