缺少Sox7导致先天性大动脉狭窄,通过异常的门重塑
Weiqi Feng1, Nanchao Hong2, Yizhuo Wu1
1Institute for Developmental and Regenerative Cardiovascular Medicine, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
Journal of molecular and cellular cardiology
|January 2, 2025
概括
转录因子Sox7对于心脏膜发育至关重要. 它在小鼠中的缺乏会通过影响细胞外矩阵重塑,细胞亡和化而导致先天性大动脉狭窄,确定Sox7是这种情况的关键基因.
科学领域:
- 心血管生物学 心血管生物学
- 发展生物学 发展生物学
- 遗传学 遗传学 是一个
背景情况:
- 心脏膜发育异常是最常见的先天性心脏形.
- 转录因子Sox7以其在血管和心脏隔离中的作用而闻名.
- 它在心脏门发育中的具体作用在很大程度上是未知的.
研究的目的:
- 研究Sox7在心脏膜发育中的作用.
- 为了确定Sox7缺乏导致先天性大动脉狭窄.
- 阐明Sox7在膜重塑中的功能背后的分子机制.
主要方法:
- 在开发小鼠和人类大动脉膜中的Sox7表达分析.
- 生成和分析内心细胞特异性Sox7淘汰赛小鼠 (Nfatc1 Cre;Sox7).
- 心声学,组织学染色 (多种,Von Kossa,Alizarin Red) 和分子分析 (基因/蛋白质表达,亡,增殖试验).
主要成果:
- 在发育中的大动脉内心和介质细胞中,Sox7的表达很高.
- 在小鼠中,Sox7缺乏导致先天性大动脉狭窄.
- 在膜细胞中,Sox7调节细胞外矩阵重塑 (通过MMP9),细胞亡,增殖和化 (影响Osterix,Osteopontin,Runx2).
- 在患有大动脉狭窄症的患者的人类胎儿大动脉中观察到减少的Sox7表达.
结论:
- Sox7对于正常的心脏膜发育至关重要.
- Sox7缺乏是先天性大动脉狭窄的病原性因素.
- 索克斯7代表着先天性膜形的潜在治疗标.
相关概念视频
Pleiotropy
39.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
39.7K
Incomplete Dominance
21.3K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
21.3K
Development of the Heart
861
The development of the human heart, a crucial organ, commences from the mesoderm on the 18th or 19th day after fertilization. This process initiates in the cardiogenic area, a group of mesodermal cells at the embryo's head end, which evolves into elongated strands known as cardiogenic cords. These cords undergo a transformation to form hollow-centered endocardial tubes.
As the embryo undergoes lateral folding, these paired tubes approach each other, merging into a single primitive heart...
As the embryo undergoes lateral folding, these paired tubes approach each other, merging into a single primitive heart...
861
Sex-linked Disorders
100.3K
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.
100.3K
Cardiovascular System Abnormal Findings II: Auscultation
100
Auscultation, an essential part of a heart examination, is done using a stethoscope. It provides crucial information about heart function and possible heart problems. Due to heart problems, abnormal sounds can be heard during systole or diastole. These sounds include S3 and S4 gallops, opening snaps, systolic clicks, and murmurs.
Abnormal Heart Sounds
Gallops:
Abnormal Heart Sounds
Gallops:
100


