Chinese researchers identify gene variant that reduces bad cholesterol

Source: Xinhua| 2018-06-11 19:58:40|Editor: Xiang Bo
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BEIJING, June 11 (Xinhua) -- Chinese researchers have identified a gene variant that can reduce cholesterol absorption to lower low-density lipoprotein cholesterol (LDL-C), known as "bad" cholesterol, high levels of which may cause cardiovascular disease.

The research, led by Song Baoliang at Wuhan University and Ma Yitong at the First Affiliated Hospital of Xinjiang Medical University, was recently published in the journal Science.

The research team identified a rare variant in the LIMA1 gene from a Chinese family of Kazakh ethnicity with inherited low LDL-C and reduced cholesterol absorption.

After experiments on mice, researchers found that LIMA1 was mainly expressed in the small intestine and it began to regulate absorption of cholesterol after interaction with NPC1L1, an essential protein for cholesterol absorption. The mice then displayed reduced cholesterol absorption and were resistant to diet-induced high cholesterol.

Keeping LDL-C within limits in the bloodstream can reduce the risk of heart attack and stroke. Although LDL-C levels vary among humans and are heritable, the genetic factors affecting LDL-C have not been fully studied.

The finding may provide a new means for designing targeted therapies for cholesterol-related diseases, said Song.