LPIN1与人类疾病研究进展  

Research progress of LPIN1 and related human diseases

作　　者：卢淑娴 吕赵劼 王志浩 寇瑶[1] 田静[1] LU Shu-Xian;LYU Zhao-Jie;WANG Zhi-Hao;KOU Yao;TIAN Jing(Key Laboratory of Resource Biology and Biotechnology in Western China,Ministry of Education,School of Medicine,Northwest University,Xi’an 710069,China)

机构地区：[1]西北大学医学院,西部资源生物与现代生物技术教育部重点实验室,西安710069

出　　处：《生命科学》2020年第11期1151-1158,共8页Chinese Bulletin of Life Sciences

基　　金：陕西省重点产业创新链(群)社会发展领域重点研发基金(2019ZDLSF02-05);西部资源生物与现代生物技术教育部重点实验室开放基金(ZSK2018010)。

摘　　要：Lipin 1是磷脂酸磷酸水解酶家族重要成员之一,在脂质合成中起着关键作用,同时也作为转录辅助活化因子调节脂质代谢相关基因的表达。LPIN1在人体脂肪组织、骨骼肌、周围神经系统均高表达,LPIN1突变会引起人类肌红蛋白尿症、肌病、脂代谢紊乱及2型糖尿病。该文从分子和遗传角度阐述人类LPIN1与以上四种疾病的内在联系,为该基因功能的深入研究以及相关疾病的诊断和治疗提供参考。Lipin 1 is one of the important members of the lipin family, which plays a key role in lipid synthesis and also acts as transcriptional coactivators to regulate the expression of genes involved in lipid metabolism. LPIN1 is highly expressed in human adipose tissue, skeletal muscle, and peripheral nervous system. Mutations in LPIN1 mainly cause myoglobinuria, myopathy lipid metabolism disorders and type 2 diabetes mellitus in human. This review focuses on the molecular mechanisms of four kinds of human diseases caused by LPIN1, which will provide a reference for further research of LPIN1 function and the clinical diagnosis and treatment of related diseases.

关 键 词：LPIN1 PAP1 肌红蛋白尿症 肌病 脂质代谢紊乱 2型糖尿病 

分 类 号：Q342[生物学—遗传学]