Meyza K Z, Blanchard D C
Laboratory of Emotions' Neurobiology, Nencki Institute of Experimental Biology, 3 Pasteur Street, Warsaw, 02-093, Poland.
Department of Psychology, University of Hawaii at Manoa,1993 East-West Road, Honolulu, HI 96822, USA.
Neurosci Biobehav Rev. 2017 May;76(Pt A):99-110. doi: 10.1016/j.neubiorev.2016.12.037. Epub 2017 Feb 3.
Autism spectrum disorder (ASD) is the most commonly diagnosed neurodevelopmental disorder, with current estimates of more than 1% of affected children across nations. The patients form a highly heterogeneous group with only the behavioral phenotype in common. The genetic heterogeneity is reflected in a plethora of animal models representing multiple mutations found in families of affected children. Despite many years of scientific effort, for the majority of cases the genetic cause remains elusive. It is therefore crucial to include well-validated models of idiopathic autism in studies searching for potential therapeutic agents. One of these models is the BTBR TItpr3/J mouse. The current review summarizes data gathered in recent research on potential molecular mechanisms responsible for the autism-like behavioral phenotype of this strain.
自闭症谱系障碍(ASD)是最常被诊断出的神经发育障碍,目前估计全球受影响儿童超过1%。这些患者构成了一个高度异质性的群体,仅有行为表型是共同的。遗传异质性反映在大量动物模型中,这些模型代表了在受影响儿童家庭中发现的多种突变。尽管经过多年的科学努力,但大多数病例的遗传病因仍然不明。因此,在寻找潜在治疗药物的研究中纳入经过充分验证的特发性自闭症模型至关重要。其中一个模型是BTBR TItpr3/J小鼠。本综述总结了近期关于该品系自闭症样行为表型潜在分子机制的研究所收集的数据。