关键词: autism spectrum disorders biomarkers cerebral organoids epigenetics iPSC-derived models intellectual disability therapeutics

来  源:   DOI:10.1016/j.molmed.2024.06.004

Abstract:
Autism spectrum disorders (ASD) comprise a range of neurodevelopmental pathologies characterized by deficits in social interaction and repetitive behaviors, collectively affecting almost 1% of the worldwide population. Deciphering the etiology of ASD has proven challenging due to the intricate interplay of genetic and environmental factors and the variety of molecular pathways affected. Epigenomic alterations have emerged as key players in ASD etiology. Their research has led to the identification of biomarkers for diagnosis and pinpointed specific gene targets for therapeutic interventions. This review examines the role of epigenetic alterations, resulting from both genetic and environmental influences, as a central causative factor in ASD, delving into its contribution to pathogenesis and treatment strategies.
摘要:
自闭症谱系障碍(ASD)包括一系列以社交互动和重复行为缺陷为特征的神经发育病理,共同影响了全球近1%的人口。由于遗传和环境因素的复杂相互作用以及受影响的各种分子途径,解密ASD的病因已被证明具有挑战性。表观基因组改变已成为ASD病因学的关键参与者。他们的研究导致了用于诊断的生物标志物的鉴定,并确定了用于治疗干预的特定基因靶标。这篇综述探讨了表观遗传改变的作用,由于遗传和环境影响,作为ASD的主要致病因素,深入研究其对发病机制和治疗策略的贡献。
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