Let's take a look at the latest research results from Shanghai Children's Medical Center. Birth defect genes may affect the recovery of adult myocardial infarction

Release time:Apr 16, 2024 05:35 AM

There are birth defects in infancy and young children, and this defective gene can actually affect adult health. Recently, the research team led by Zhang Zhen, a researcher at the National Children's Medical Center and the Shanghai Children's Medical Center affiliated with the School of Medicine of Shanghai Jiao Tong University, published a latest study titled "Lymphatic endogenetic transcription factor Tbx1 promotes an immunosuppressive microenvironment to facilitate post myocardial infarction repair" in the top international journal of immunology, Immunology, revealing the role of birth defect genes in the repair of adult cardiovascular diseases.

Birth defects are one of the common diseases among infants and young children. Common birth defects include congenital heart disease, craniofacial malformations, etc., which pose a great threat to the health and survival of infants and young children. Previous research on the long-term impact of birth defects on health has been limited, and the research topic has mainly focused on other diseases caused by pathological conditions of birth defects. This study found that, in addition to comorbidities of birth defects, the potential impact of genetic defects on the adult life and diseases of patients cannot be ignored. Therefore, it is necessary to incorporate genetic pathogenic information into the consultation and long-term care mechanisms of birth defect patients.

Insufficient dosage of Tbx1 gene, a transcription factor of lymphatic vessel endothelium, is an important cause of congenital heart disease in 22q11.2 deficiency syndrome. The incidence of chromosomal microdeletions in newborns can reach up to 1:2000, making it one of the most common chromosomal microdeletions in humans.

This study found that the Tbx1 gene encoding transcription factors is specifically activated and upregulated in endothelial cells of cardiac lymphatic vessels after myocardial infarction, driving the expression of two types of genes: one can promote lymphatic vessel formation, and the other has important immune regulatory functions. Therefore, the unfolding of this molecular program can not only promote the formation of new lymphatic vessels after myocardial infarction, promote the entry of lymphatic endothelial cells into the infarcted area, but also enhance the immunosuppressive function of lymphatic endothelial cells, effectively establishing an immunosuppressive microenvironment in the myocardial infarction area. By inhibiting the expansion of self reactive CD8+T cells and promoting the expansion of reparative macrophages, it can help patients with myocardial infarction repair. From this perspective, birth defects are a warning that reminds adults to pay attention to preventing heart attacks.

With the development of pediatric medical technology, many birth defects and functional deficiencies in patients can be greatly corrected after treatment, and more and more children's lives can be extended with medical help. But compared to healthy children, patients with birth defects often face more challenges when facing adult life, including physical health challenges brought about by diseases, as well as social and psychological challenges brought about by lifestyle changes.

Zhang Zhen believes that considering the heterogeneity of genetic pathogenic factors, personalized counseling and care are particularly important, and pediatricians can play a very important role in the medical care of such adult patients. For society, the establishment of consultation and care mechanisms for patients with various birth defects is also urgently needed.

Researcher Zhang Zhen and Associate Researcher Zhang Min from Shanghai Children's Medical Center are the co corresponding authors of this research paper. Wang Wenfeng, a doctoral student at Shanghai Jiao Tong University School of Medicine, Li Xiao, a researcher at the Texas Heart Research Center in the United States, Ding Xiaoning, and Xiong Shanshan, doctoral students at Shanghai Jiao Tong University School of Medicine, are co first authors.

Text: Zhang Qi

*Reprinted from official WeChat account released by Pudong

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