Is the culprit gene abnormalities in pediatric congenital heart disease

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In the research on the Cx43 gene abnormal mouse model, the first time in our country that the abnormal Cx43 gene can directly lead to the oc

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In the research on the Cx43 gene abnormal mouse model, the first time in our country that the abnormal Cx43 gene can directly lead to the occurrence of congenital heart disease.

According to statistics, the incidence rate of 8 per thousand is harm to the health of children with congenital heart disease, the most common cardiovascular disease. However, its etiology and pathogenesis are not clear. Using a mouse model, using PCR hybridization method, after 4 years of research, this issue made a clear answer: Cx43 gene plays an important role in the process of embryonic heart development, Cx43 gene abnormalities can lead to pulmonary artery stenosis congenital heart disease. In the study, the mice that had been removed from the Cx43 gene or a copy of the Cx43 gene were found to have heart defects such as pulmonary artery stenosis and then died.

In order to further reveal the mechanism of the occurrence of congenital heart disease caused by abnormal Cx43 gene, an expert study was carried out. The results showed that Cx43 is a kind of cell gap junction protein, cell gap which are connected is an important channel for information exchange between the embryonic cells, expressed in many organs and tissues, including cardiac neural crest cells. Cx43 gene abnormalities of cardiac neural crest cells migrate to the primitive heart tube during embryonic development can not, can not stay in the artery and conotruncal region normal differentiation of stromal cells, thus affecting the cardiac neural crest cells, and the right ventricular outflow tract development impact, resulting in congenital heart disease with pulmonary artery stenosis.

In addition, experts for the first time using the ultrasonic Doppler fetal echocardiography was used to study the abnormal Cx43 gene in mice model, cardiac hemodynamic changes were observed in Cx43 gene abnormal fetal mice, found that when the abnormality of Cx43 gene in mice, systolic ejection disorders, heart diastolic function disorders, from the view of pathophysiology to further clarify the Cx43 gene caused by abnormal cardiac dysfunction.

 

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