移码突变
胆固醇
内科学
吸收(声学)
内分泌学
生物
基因
医学
化学
遗传学
突变
物理
声学
作者
Yingyu Zhang,Zhen-Yan Fu,Jian Wei,Wei Qi,Gulinaer Baituola,Jie Luo,Ya Jie Meng,Shuyuan Guo,Huiyong Yin,Shi‐You Jiang,LI Yun-feng,Hong‐Hua Miao,Yong Liu,Yan Wang,Bo-Liang Li,Yi-Tong Ma,Bao‐Liang Song
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2018-06-07
卷期号:360 (6393): 1087-1092
被引量:116
标识
DOI:10.1126/science.aao6575
摘要
A missing link in cholesterol absorption Cholesterol is important for general health, but too much can build up in artery walls and cause cardiovascular disease. Low-density lipoprotein cholesterol (LDL-C) is often referred to as “bad cholesterol”; keeping LDL-C within stringent limits is recommended to reduce the risk of heart attack and stroke. Zhang et al. discovered that some individuals have an inherited frameshift mutation in the LIMA1 gene (also known as EPLIN or SREBP3 ). The gene has not been linked to lipid metabolism before, but altered LIMA1 was found to maintain low plasma LDL-C by reducing the absorption of cholesterol through the intestine. Pharmacological targeting through the LIMA1 pathway might thus provide a strategy to improve heart health. Science , this issue p. 1087
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