对双出口右心室单胞胎双胞胎异调的综合多态学分析
Zhen Liu1,2, Nana Li1,2, Xiaoyu Pan3,4
1National Center for Birth Defect Monitoring of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
概括
表观遗传变化,特别是全球低甲基化,与诸如双出口右心室 (DORVs) 等先天性心脏缺陷 (CHDs) 有关. 这项针对不和双胞胎的多组学研究确定了参与心血管疾病发展的关键基因和途径.
科学领域:
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 发展生物学 发展生物学
- 基因组学就是基因组学.
背景情况:
- 先天性心脏缺陷 (CHD) 是复杂病因的常见出生缺陷.
- 表观遗传学在心脏病发展中的作用,特别是双出口右心室 (DORVs),仍然不完全理解.
研究的目的:
- 为了研究对DORV.不和的单胞胎双胞胎的表观遗传变化.
- 为了识别与心血管疾病发生相关的多omics签名.
主要方法:
- 用一个不和的单胞胎双胞胎模型用于DORV.
- 进行了全基因组测序,二硫酸盐测序,RNA测序和质谱.
- 综合多主题数据,用于全面分析.
主要成果:
- 在受影响双胞胎的心脏组织中观察到全球低甲基化.
- 确定了36,228个差异甲基化区域 (DMR) 和显著的基因/蛋白质表达变化.
- 突出了五个基因 (BGN, COL1A1, COL3A1, FBLN5, FLAN) 和三个通路 (ECM受体相互作用,焦点粘附,TGF-β信号传递) 在多个奥米克水平.
结论:
- 全球低甲基化可能会增加心血管疾病的风险.
- 特定的基因和通路,包括ECM受体相互作用,焦点粘附和TGF-β信号传递,都与心血管疾病的发病有关.
- 这种多种经济学方法为DORV发展机制提供了洞察力.
相关概念视频
Anatomy of the Heart
The human heart is made up of three layers of tissue that are surrounded by the pericardium, a membrane that protects and confines the heart. The outermost layer, closest to the pericardium, is the epicardium. The pericardial cavity separates the pericardium from the epicardium. Beneath the epicardium is the myocardium, the middle layer, and the endocardium, the innermost layer. There are four chambers of the heart: the right atrium, the right ventricle, the left atrium, and the left ventricle.
Anatomy of the Brain: Ventricles
There are hollow fluid-filled cavities known as ventricles deep inside the human brain. There are two lateral ventricles, one in each cerebral hemisphere, and each has three different projections — the anterior, inferior, and posterior horns visible from the lateral side. A thin membrane called the septum pellucidum separates the two lateral ventricles. The slender third ventricle in the diencephalon is connected to each lateral ventricle via a channel called the interventricular foramen. The...
Chambers of the Heart
The human heart is a complex organ made up of four chambers: the right and left atria and the right and left ventricles. These internal chambers are separated by partitions known as the interatrial and interventricular septa. The exterior of the heart features a groove known as the coronary sulcus that demarcates the atria from the ventricles, while the anterior and posterior interventricular sulci distinguish between the two ventricles.
Deoxygenated blood from the body is received in the right...
Deoxygenated blood from the body is received in the right...
Anatomy of the Heart
The heart is a hollow, muscular organ approximately the size of a fist, consisting of four chambers. It is enclosed in the pericardium, a fibrous sac with two layers: the visceral and parietal pericardium, separated by a fluid-filled space containing serous fluid to reduce friction.
The heart has three layers: the innermost endocardium, the muscular myocardium, and the outer epicardium, all working together for optimal cardiac function.
Chambers of the Heart
The heart is made up of four...
The heart has three layers: the innermost endocardium, the muscular myocardium, and the outer epicardium, all working together for optimal cardiac function.
Chambers of the Heart
The heart is made up of four...
Imaging Studies for Cardiovascular System II:Types of Echocardiography
Echocardiography plays a role in assessing cardiac health and detecting heart conditions, with various types providing critical insights for diagnosis and treatment.
Types of Echocardiography
Transthoracic Echocardiography (TTE)
TTE is the most common type of echocardiogram which involves placing a transducer on the patient's chest, emitting sound waves to create heart images. TTE is invaluable for evaluating the heart's size, structure, and motion, making it particularly useful for diagnosing...
Types of Echocardiography
Transthoracic Echocardiography (TTE)
TTE is the most common type of echocardiogram which involves placing a transducer on the patient's chest, emitting sound waves to create heart images. TTE is invaluable for evaluating the heart's size, structure, and motion, making it particularly useful for diagnosing...


