( Software translation ) Autism Genetics, Genetics and Epigenetics: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder whose pathogenesis involves many factors including genetics, genetics and epigenetics. Studies have shown that genetic factors play an important role in the development of ASD, and the contribution rate of genetic factors is estimated to exceed 50% ~ 60%.
Genetics and Genetics:
· Susceptibility genes: Multiple studies have found that patients with ASD have multiple susceptibility gene mutations, which mainly encode proteins related to nervous system development and synaptic transmission.For example, mutations in the SHANK3 gene are thought to be closely associated with the development of ASD.
· Familial aggregation: ASD has a certain aggregation phenomenon in the family. The probability of simultaneous disease in identical twins is higher than that in fraternal twins, suggesting that genetic factors play an important role in ASD.
Epigenetics:
The study of External Observation and External Inheritance focuses on the mechanism that DNA sequence changes but gene expression changes, such as DNA methylation and histone modification. Environmental factors, such as toxin exposure, may affect gene expression through epigenetic mechanisms, thereby increasing the risk of ASD.
· DNA methylation: Studies have found abnormal patterns of DNA methylation in certain gene regions of ASD patients, which may lead to dysregulation of gene expression.For example, the SHANK3 gene shows abnormal epigenetic regulation in ASD patients.
· Parental age: Studies have shown that increased paternal age is associated with epigenetic DNA methylation changes in sperm, including specific genes associated with autism.These changes could affect the health and disease susceptibility of future generations.
It is important to note that the pathogenesis of ASD is complex, with genetic and environmental factors interacting through multiple pathways. Future research will continue to explore how these factors together influence the occurrence and development of ASD, with a view to providing new ideas for prevention and treatment.
