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神经发育障碍的遗传和环境调节:从实验室到临床的转化见解

Genetic and environmental modulation of neurodevelopmental disorders: Translational insights from labs to beds.

作者信息

Homberg Judith R, Kyzar Evan J, Scattoni Maria Luisa, Norton William H, Pittman Julian, Gaikwad Siddharth, Nguyen Michael, Poudel Manoj K, Ullmann Jeremy F P, Diamond David M, Kaluyeva Aleksandra A, Parker Matthew O, Brown Richard E, Song Cai, Gainetdinov Raul R, Gottesman Irving I, Kalueff Allan V

机构信息

Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, Netherlands.

Department of Psychiatry, College of Medicine, University of Illinois at Chicago, Chicago, IL, USA; The International Stress and Behavior Society (ISBS) and ZENEREI Research Center, Slidell, LA, USA.

出版信息

Brain Res Bull. 2016 Jul;125:79-91. doi: 10.1016/j.brainresbull.2016.04.015. Epub 2016 Apr 23.

Abstract

Neurodevelopmental disorders (NDDs) are a heterogeneous group of prevalent neuropsychiatric illnesses with various degrees of social, cognitive, motor, language and affective deficits. NDDs are caused by aberrant brain development due to genetic and environmental perturbations. Common NDDs include autism spectrum disorder (ASD), intellectual disability, communication/speech disorders, motor/tic disorders and attention deficit hyperactivity disorder. Genetic and epigenetic/environmental factors play a key role in these NDDs with significant societal impact. Given the lack of their efficient therapies, it is important to gain further translational insights into the pathobiology of NDDs. To address these challenges, the International Stress and Behavior Society (ISBS) has established the Strategic Task Force on NDDs. Summarizing the Panel's findings, here we discuss the neurobiological mechanisms of selected common NDDs and a wider NDD+ spectrum of associated neuropsychiatric disorders with developmental trajectories. We also outline the utility of existing preclinical (animal) models for building translational and cross-diagnostic bridges to improve our understanding of various NDDs.

摘要

神经发育障碍(NDDs)是一组异质性的常见神经精神疾病,伴有不同程度的社交、认知、运动、语言和情感缺陷。NDDs是由遗传和环境干扰导致的大脑发育异常引起的。常见的NDDs包括自闭症谱系障碍(ASD)、智力残疾、沟通/言语障碍、运动/抽动障碍和注意力缺陷多动障碍。遗传和表观遗传/环境因素在这些具有重大社会影响的NDDs中起着关键作用。鉴于缺乏有效的治疗方法,进一步深入了解NDDs的病理生物学对于转化医学至关重要。为应对这些挑战,国际压力与行为协会(ISBS)成立了NDDs战略特别工作组。在此,我们总结了该小组的研究结果,讨论了选定的常见NDDs以及更广泛的与发育轨迹相关的NDD + 谱系神经精神疾病的神经生物学机制。我们还概述了现有临床前(动物)模型在建立转化和跨诊断桥梁以增进我们对各种NDDs理解方面的效用。

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