Broek Jantine A C, Brombacher Eva, Stelzhammer Viktoria, Guest Paul C, Rahmoune Hassan, Bahn Sabine
Department of Chemical Engineering and Biotechnology, University of Cambridge, Cambridge, UK.
Int J Neuropsychopharmacol. 2014 Apr;17(4):651-73. doi: 10.1017/S146114571300117X. Epub 2013 Nov 12.
Autism spectrum disorders (ASD) are a heterogeneous group of disorders which have complex behavioural phenotypes. Although ASD is a highly heritable neuropsychiatric disorder, genetic research alone has not provided a profound understanding of the underlying causes. Recent developments using biochemical tools such as transcriptomics, proteomics and cellular models, will pave the way to gain new insights into the underlying pathological pathways. This review addresses the state-of-the-art in the search for molecular biomarkers for ASD. In particular, the most important findings in the biochemical field are highlighted and the need for establishing streamlined interaction between behavioural studies, genetics and proteomics is stressed. Eventually, these approaches will lead to suitable translational ASD models and, therefore, a better disease understanding which may facilitate novel drug discovery efforts in this challenging field.
自闭症谱系障碍（ASD）是一组具有复杂行为表型的异质性疾病。尽管ASD是一种高度可遗传的神经精神疾病，但仅靠基因研究尚未对其潜在病因有深刻理解。近期利用转录组学、蛋白质组学和细胞模型等生化工具取得的进展，将为深入了解潜在病理途径铺平道路。本综述阐述了寻找ASD分子生物标志物的最新进展。特别强调了生化领域的最重要发现，并强调了在行为研究、遗传学和蛋白质组学之间建立简化相互作用的必要性。最终，这些方法将促成合适的ASD转化模型，从而更好地理解该疾病，这可能有助于在这个具有挑战性的领域开展新药研发工作。
