自闭症生物学

邓文龙

自闭症生物学

自闭症生物学 ：  自闭症谱系障碍（ASD）是一种复杂的神经发育障碍，其生物学机制涉及遗传、神经发育和环境等多种因素。研究表明，约20%的ASD病例由单基因突变引起，如X染色体易裂症或Rett综合征，这些突变通常自发产生，并非遗传自父母。  其余80%的病例可能涉及多基因变化的组合，影响大脑发育和功能。
在神经发育方面，研究发现部分ASD患者在生命早期出现大脑过度生长的现象。索尔克研究所的科学家利用干细胞技术，揭示了这种过度生长可能由神经元之间连接减少引起。  此外，神经突触功能的异常也被认为是ASD的关键因素。例如，SH3RF2基因的单拷贝缺失可能导致左脑半球突触功能缺陷，从而引发ASD相关症状。  
环境因素同样在ASD的发病中起重要作用。母亲孕期感染、营养缺乏或接触有害物质等，可能通过影响胎儿大脑发育，增加孩子患ASD的风险。  综上所述，ASD的生物学机制是多因素交互作用的结果，包括遗传突变、神经发育异常和环境影响等。深入理解这些机制，有助于开发更有效的诊断和治疗方法。



( Software translation )   Autism Biology : Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder whose biological mechanisms involve a variety of factors, including genetics, neurodevelopment, and the environment. Studies have shown that about 20% of cases of ASD are caused by single-gene mutations, such as X chromosome vulnerability or Rett syndrome, which are usually spontaneous and not inherited from parents. The remaining 80 percent of cases may involve a combination of multiple genetic changes that affect brain development and function.
In terms of neurodevelopment, studies have found that some people with ASD experience brain overgrowth early in life. Using stem cell technology, scientists at the Salk Institute have revealed that this excessive growth may be caused by a decrease in connections between neurons. In addition, abnormalities in synaptic function have also been identified as key factors in ASD. For example, a single copy deletion of the SH3RF2 gene may result in a defect in synaptic function in the left hemisphere, which can trigger ASD-related symptoms.  
Environmental factors also play an important role in the development of ASD. Maternal infection, nutrition deficiency or exposure to harmful substances during pregnancy may increase the risk of ASD by affecting fetal brain development. In summary, the biological mechanism of ASD is the result of multifactorial interactions, including genetic mutations, neurodevelopmental abnormalities, and environmental influences. Deeper understanding of these mechanisms can help develop more effective diagnostic and therapeutic approaches.

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