Department of Counseling and Clinical Psychology, Medaille College, Buffalo, NY 14214, USA.
Department of Clinical Specialties, New York College of Osteopathic Medicine, Old Westbury, NY 11568, USA.
Genes (Basel). 2023 Aug 30;14(9):1734. doi: 10.3390/genes14091734.
Complex interactions between gene variants and environmental risk factors underlie the pathophysiological pathways in major psychiatric disorders. Autism Spectrum Disorder is a neuropsychiatric condition in which susceptible alleles along with epigenetic states contribute to the mutational landscape of the ailing brain. The present work reviews recent evolutionary, molecular, and epigenetic mechanisms potentially linked to the etiology of autism. First, we present a clinical vignette to describe clusters of maladaptive behaviors frequently diagnosed in autistic patients. Next, we microdissect brain regions pertinent to the nosology of autism, as well as cell networks from the bilateral body plan. Lastly, we catalog a number of pathogenic environments associated with disease risk factors. This set of perspectives provides emerging insights into the dynamic interplay between epigenetic and environmental variation in the development of Autism Spectrum Disorders.
基因变异与环境风险因素之间的复杂相互作用是导致主要精神疾病病理生理途径的基础。自闭症谱系障碍是一种神经精神疾病，易感等位基因和表观遗传状态共同导致患病大脑的突变景观。本工作综述了与自闭症病因学可能相关的最近的进化、分子和表观遗传机制。首先，我们呈现了一个临床病例描述，以描述经常在自闭症患者中诊断出的一系列适应不良行为。接下来，我们对与自闭症分类学相关的大脑区域以及来自双侧体节的细胞网络进行微观解剖。最后，我们列出了许多与疾病风险因素相关的致病环境。这组观点提供了关于自闭症谱系障碍发展过程中表观遗传和环境变化之间动态相互作用的新见解。
