胆固醇合成与先天性心脏病关联研究
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南京医科大学胡志斌团队发现,母亲孕期缺乏胆固醇,后代先天性心脏病风险升高
生物世界· 2025-11-15 01:06
Core Insights - The article discusses the relationship between maternal cholesterol levels during pregnancy and the risk of congenital heart defects (CHD) in offspring, highlighting the importance of cholesterol in fetal development [2][10]. Group 1: Research Findings - A study published in "Signal Transduction and Targeted Therapy" indicates that low maternal cholesterol levels during pregnancy are significantly associated with an increased risk of CHD in offspring, particularly during mid to late pregnancy [3][6]. - The research involved a cohort of 5,041 family trios and found a notable correlation between maternal low cholesterol levels and the incidence of CHD in children [6]. - The study utilized cholesterol-lowering drugs, ezetimibe and atorvastatin, on pregnant mice, which resulted in a significant increase in the incidence of CHD in their offspring [8]. Group 2: Genetic Insights - Whole-genome sequencing of 103 children with CHD identified a pathogenic mutation in the CYP51A1 gene, which affects cholesterol synthesis and disrupts Hedgehog (Hh) signaling, leading to CHD [8]. - The study created a Cyp51 I383V gene knock-in mouse model to further investigate the link between cholesterol synthesis and CHD, confirming that dietary cholesterol supplementation could significantly reduce the risk of CHD in offspring of mutant mothers [8][10]. Group 3: Implications for Maternal Health - The findings suggest that maternal cholesterol supplementation during pregnancy could be an effective strategy to lower the risk of CHD in children, emphasizing the need for further research in this area [10].