Recently, in a research report published in the internationally renowned journal Nature, researchers from Yale University School of Medicine through a large number of genomics studies revealed that there are no new genetic mutations in their offspring but not in their parents. , Can cause at least 10% of offspring to produce severe congenital heart disease.
In the article, the researchers analyzed all the genes of more than 1,800 individuals and found that hundreds of gene mutations can cause congenital heart disease. Congenital heart disease is a birth defect of about 1% of newborns. A study found that genes that modify histones will undergo frequent genetic mutations. Histone is a protein that encapsulates DNA in the nucleus.
Researcher Professor Richard Lifton said that these research findings provide us with research ideas and suggestions for revealing the pathogenesis of common congenital diseases. What is more interesting is that a series of mutated genes in patients with congenital heart disease actually caused and triggered The genes and pathways of autism are duplicated, and these research findings indicate that there are actually some common molecular pathways behind common congenital diseases.
This research is very important for understanding the causes of congenital heart disease. In the future, powerful deep sequencing technology will also help scientists to deeply analyze the molecular mechanism of the disease, which can help individuals effectively treat and prevent congenital heart disease. happened.
Researcher Martina Brueckner said that mutations often occur at the same site, which can increase or decrease histone modification. The research results provide hope and help for the development of corresponding disease therapies and preventive measures, and this research also implies the basis The molecular mechanism of sex may play an important role in the onset of a series of congenital diseases.
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