Chinese experts discover new genetic genes that cause heart teratogenesis

China News Service, Shanghai, June 9 (Chen Jing Jiang Rong) Congenital heart disease is the most common birth defect and one of the current public health problems
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The reporter learned on the 9th that the joint study of the National Children's Medical Center (Shanghai), the Shanghai Children's Medical Center affiliated to Shanghai Jiaotong University School of Medicine, Professor Fu Qihua's team, and Zhang Zhen's team has clarified the molecular mechanism of the occurrence of heart structural abnormalities caused by the loss of SORBS2 gene function
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According to reports, congenital heart disease is a polygenic disease, and the cause of a case is often difficult to determine
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Fu Qihua's research team has long-term genetic research on prior congenital heart disease (congenital heart disease) and found that the deletion of the long arm of chromosome 4 (4q35.
1) is related to congenital heart disease
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It is reported that Fu Qihua and Zhang Zhen's research team have cooperated to confirm the pathogenicity of SORBS2 deletion through multiple research approaches such as the embryonic stem cell targeted differentiation system and the targeted sequencing of patients with congenital heart disease
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This study provides multiple evidences at the disease population, animal and cell levels, confirming that SORBS2 is the causative gene of congenital heart disease and elucidating its pathogenic mechanism, which provides more discovery of weaker pathogenic genes of congenital heart disease.
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This project is funded by the National Natural Science Foundation of China, the Major Basic Research Project of the Shanghai Municipal Science and Technology Commission, and the Collaborative Innovation Cluster Project of the Shanghai Municipal Health Commission
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