Scientists reveal human cholesterol regulation "password"

June 11, 2018 Source: Chinese Journal of Science

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Recently, the United States "Science" magazine published the latest research results of Professor Song Baoliang, the dean of the School of Life Sciences of Wuhan University and the director of the Key Laboratory of Cell Steady State of Hubei Province. They have successfully discovered a new gene in the human body, LIMA1, which regulates human cholesterol absorption. This finding provides a new drug development target for the treatment of hyperlipidemia.

According to reports, elevated levels of "low-density lipoprotein cholesterol (LDL-C)" in the plasma of humans are the main risk of cardiovascular and cerebrovascular diseases. The level of LDL-C is controlled by both genetics and diet. Understanding the genetic regulation mechanism of human LDL-C levels is a prerequisite for disease diagnosis and treatment, and only a few genes affecting LDL-C have been identified.

The content of LDL-C and the incidence of coronary heart disease vary greatly among different races. In order to reveal new cholesterol-regulating genes, Song Baoliang's research team cooperated with Ma Yijun team of Xinjiang Medical University to investigate the risk of cardiovascular and cerebrovascular diseases in Xinjiang population. A family of low-LDL-C Kazakhs was discovered. Through genome-wide exon sequencing and gene association analysis, it was found that the rare frameshift mutation (K306fs) of LIMA1 gene was significantly associated with low LDL-C.

The team's in-depth study found that LIMA1 is specifically expressed in the small intestine, and the latter is anchored to myosin Myosin Vb by interaction with NPC1L1 protein, thereby regulating the absorption of cholesterol in the small intestine. The study provides a new drug development target for cholesterol lowering and will help understand why Kazakhs consume more beef and mutton, but the prevalence of cardiovascular and cerebrovascular diseases is lower than that of the Han population. (Reporter Lu Wei correspondent Wu Jianglong)

ã€ŠJournal of Chinese Sciencesã€‹ (2018-06-11 1st edition)

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