TG账号秒盗技术|【唯一TG:@heimifeng8】|Telegram账号破解源码✨谷歌搜索留痕排名,史上最强SEO技术,20年谷歌SEO经验大佬✨PNAS: Genes responsible for 60% of congenital heart defects discovered
An international team of scientists from the Pediatric Cardiac Genomics Consortium (PCGC) has identified 60 key genes whose mutations significantly increase the risk of congenital heart disease (CHD). The study was published in the scientific journal Proceedings of the National Academy of Sciences (PNAS).
Specialists analyzed data from more than 11 thousand patients and found that about 60% of CHD cases are associated with mutations in 60 genes, half of which have a specific link to certain types of pathologies.
They also learned that 5% of mutations are passed on from clinically healthy parents, which explains familial cases of CHD in the absence of symptoms in the older generation.
In families where both parents are carriers of recessive mutations, the risk of CHD in the child is increased sevenfold.
In addition, more than half (37) of the genes on the list were also found to be associated with autism and other neurodevelopmental disorders.
According to the researchers, the discovery could improve early screening of children with CHD. Genetic testing of newborns will allow the detection of associated risks (such as arrhythmias or autism) before symptoms appear.
Scientists emphasize that 10 out of 60 genes are involved in chromatin modification, a process that regulates the activity of other genes. This opens new avenues for therapies aimed at epigenetic correction.