Badcock C, Crespi B
Department of Sociology, London School of Economics, London, UK.
J Evol Biol. 2006 Jul;19(4):1007-32. doi: 10.1111/j.1420-9101.2006.01091.x.
We describe a new hypothesis for the development of autism, that it is driven by imbalances in brain development involving enhanced effects of paternally expressed imprinted genes, deficits of effects from maternally expressed genes, or both. This hypothesis is supported by: (1) the strong genomic-imprinting component to the genetic and developmental mechanisms of autism, Angelman syndrome, Rett syndrome and Turner syndrome; (2) the core behavioural features of autism, such as self-focused behaviour, altered social interactions and language, and enhanced spatial and mechanistic cognition and abilities, and (3) the degree to which relevant brain functions and structures are altered in autism and related disorders. The imprinted brain theory of autism has important implications for understanding the genetic, epigenetic, neurological and cognitive bases of autism, as ultimately due to imbalances in the outcomes of intragenomic conflict between effects of maternally vs. paternally expressed genes.
我们描述了一种关于自闭症发展的新假说，即它是由大脑发育失衡所驱动的，这种失衡涉及父源表达的印记基因的增强作用、母源表达基因的作用缺陷，或两者兼而有之。这一假说得到以下几点支持：（1）自闭症、天使综合征、雷特综合征和特纳综合征的遗传及发育机制中存在强大的基因组印记成分；（2）自闭症的核心行为特征，如自我关注行为、社交互动和语言改变，以及空间和机械认知及能力增强；（3）自闭症及相关疾病中相关脑功能和结构的改变程度。自闭症的印记脑理论对于理解自闭症的遗传、表观遗传、神经学和认知基础具有重要意义，因为最终这是由于母源与父源表达基因的作用在基因组内冲突的结果失衡所致。
