Blum Kenneth, Bowirrat Abdalla, Sunder Keerthy, Thanos Panayotis K, Hanna Colin, Gold Mark S, Dennen Catherine A, Elman Igor, Murphy Kevin T, Makale Milan T
Division of Addiction Research & Education, Center for Exercise Sports, Mental Health, Western University of Health Sciences, Pomona, CA 91766, USA.
Sunder Foundation, Palm Springs, CA 92264, USA.
Brain Sci. 2024 Jul 22;14(7):733. doi: 10.3390/brainsci14070733.
Autism spectrum disorder (ASD) is primarily characterized by core deficits in social skills, communication, and cognition and by repetitive stereotyped behaviors. These manifestations are variable between individuals, and ASD pathogenesis is complex, with over a thousand implicated genes, many epigenetic factors, and multiple environmental influences. The mesolimbic dopamine (DA) mediated brain reward system is held to play a key role, but the rapidly expanding literature reveals intricate, nuanced signaling involving a wide array of mesolimbic loci, neurotransmitters and receptor subtypes, and neuronal variants. How altered DA signaling may constitute a downstream convergence of the manifold causal origins of ASD is not well understood. A clear working framework of ASD pathogenesis may help delineate common stages and potential diagnostic and interventional opportunities. Hence, we summarize the known natural history of ASD in the context of emerging data and perspectives to update ASD reward signaling. Then, against this backdrop, we proffer a provisional framework that organizes ASD pathogenesis into successive levels, including (1) genetic and epigenetic changes, (2) disrupted mesolimbic reward signaling pathways, (3) dysregulated neurotransmitter/DA signaling, and finally, (4) altered neurocognitive and social behavior and possible antagonist/agonist based ASD interventions. This subdivision of ASD into a logical progression of potentially addressable parts may help facilitate the rational formulation of diagnostics and targeted treatments.
自闭症谱系障碍(ASD)的主要特征是社交技能、沟通和认知方面的核心缺陷以及重复刻板行为。这些表现因人而异,ASD的发病机制很复杂,涉及一千多个相关基因、许多表观遗传因素和多种环境影响。中脑边缘多巴胺(DA)介导的大脑奖赏系统被认为起着关键作用,但迅速扩充的文献揭示了涉及广泛的中脑边缘位点、神经递质和受体亚型以及神经元变体的复杂、细微的信号传导。目前尚不清楚DA信号改变如何构成ASD多种因果起源的下游汇聚点。一个清晰的ASD发病机制工作框架可能有助于勾勒出共同阶段以及潜在的诊断和干预机会。因此,我们在新出现的数据和观点背景下总结了已知的ASD自然史,以更新ASD奖赏信号。然后,在此背景下,我们提出一个临时框架,将ASD发病机制分为连续几个层面,包括(1)遗传和表观遗传变化,(2)中脑边缘奖赏信号通路中断,(3)神经递质/DA信号失调,最后,(4)神经认知和社交行为改变以及基于拮抗剂/激动剂的ASD可能干预措施。将ASD细分为可能可解决部分的逻辑进展,可能有助于促进诊断和靶向治疗的合理制定。