孕产妇胆固醇缺乏导致先天性心脏缺陷的风险
Yayun Gu1,2,3, Jimiao Gao1,2, Hong Lv1,2
1State Key Laboratory of Reproductive Medicine and offspring health, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, 211100, China.
Signal transduction and targeted therapy
|November 11, 2025
概括
怀孕期间母亲的低胆固醇与婴儿患先天性心脏缺陷 (CHD) 的风险更高有关. 增加母亲的胆固醇摄入量可能有助于通过支持健康的胎儿发育来减少这种风险.
科学领域:
- 心血管遗传学 心血管遗传学
- 发展生物学 发展生物学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 母亲胆固醇水平与先天性心脏缺陷 (CHD) 之间的联系需要进一步阐明.
- 观察到低母体胆固醇与后代心血管疾病风险增加有关.
研究的目的:
- 调查母亲胆固醇缺乏和心脏病风险之间的因果关系.
- 识别导致胆固醇代谢和心脏病的遗传变异.
- 探索治疗策略,以预防与胆固醇缺乏相关的CHD.
主要方法:
- 对出生队列研究 (5041个家庭三组) 和母亲胆固醇水平的分析.
- 在怀孕小鼠中使用降胆固醇剂 (ezetimibe,atorvastatin) 试验诱导心血管疾病.
- 全基因组测序以确定心血管疾病病例中的致病变体;开发Cyp51I383V的小鼠模型.
主要成果:
- 低母体胆固醇与心脏病风险增加有显著的相关性 (RR 1.52-1.73).
- 在小鼠中,降胆固醇药物治疗增加了心脏病发病率.
- 一种复发的CYP51A1变体 (c.1147A>G,p.Ile383Val) 破坏了胆固醇合成和受损的刺信号,导致心脏病.
- 在小鼠模型中,母体胆固醇补充剂减轻了心脏病风险.
结论:
- 孕妇在怀孕期间缺乏胆固醇会损害的信号传递,增加后代患心血管疾病的风险.
- 针对孕产妇的胆固醇水平,可能通过补充,可能提供一种预防心脏病的策略.
相关概念视频
Inborn Errors of Metabolism
688
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
688
Lipids: Dietary Sources and Requirements
1.8K
Lipids are an essential component of a balanced human diet. Triglycerides, which make up the majority of dietary lipids, are found in both saturated fats—commonly present in meat, dairy products, and certain tropical plants like coconut, and hydrogenated oils such as margarine and baking shortenings (trans fats)—and unsaturated fats, which are abundant in seeds, nuts, olive oil, and most vegetable oils. The main sources of cholesterol include egg yolks, various meats and organ...
1.8K
Cholesterol: Significance and Regulation
1.2K
Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
Considering cholesterol and...
1.2K
Teratogenicity
3.9K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
3.9K
Sex-linked Disorders
108.2K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
108.2K
Pathophysiology of Diabetes
3.1K
Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
3.1K


