Research progress of monogenetic disorders of the lipid metabolism
10.3969/j.issn.1001-6325.2018.04.028
- VernacularTitle:单基因脂代谢异常的研究进展
- Author:
Song YANG
1
;
Yan-Wen QIN
Author Information
1. 首都医科大学附属北京安贞医院 北京市心肺血管疾病研究所
- Keywords:
lipid metabolism;
monogenetic disorders;
low density lipoprotein cholesterol;
triglyceride;
high density lipoprotein cho-lesterol
- From:
Basic & Clinical Medicine
2018;38(4):557-562
- CountryChina
- Language:Chinese
-
Abstract:
Monogenetic disorders of the lipid metabolism are closely related to atherosclerotic cardiovascular disea-ses. Different mutations contribute to different pathogenesis and clinical presentations.Mutations in endogenous lipid metabolic pathway increase serum low density lipoprotein cholesterol or total cholesterol; mutations in exogenous lipid metabolism cause hypertriglyceridemia and mixed dyslipidemia; mutations in the reverse cholesterol transport lead to high density lipoprotein abnormalities.