Centre de Recherche du Centre Hospitalier de l'Université de Montreál (CRCHUM), 900 St-Denis Street, Montreál, Québec H2X 0A9, Canada.
Centre de Recherche du Centre Hospitalier de l'Université de Montreál (CRCHUM), 900 St-Denis Street, Montreál, Québec H2X 0A9, Canada; Department of Biochemistry and Molecular Medicine, Université de Montreál, 2960 Chemin de la Tour, Montreál, Québec H3T 1J4, Canada.
Exp Neurol. 2017 Jul;293:101-114. doi: 10.1016/j.expneurol.2017.03.022. Epub 2017 Apr 1.
Autism spectrum disorder (ASD) is the most common neurodevelopmental disorder with a constantly increasing prevalence. Model organisms may be tools to identify underlying cellular and molecular mechanisms, as well as aid the discovery and development of novel therapeutic approaches. A simple animal such as the nematode Caenorhabditis elegans may provide insights into the extreme complexity of ASD genetics. Despite its potential, using C. elegans in ASD research is a controversial approach and has not yet been used extensively in this context. In this study, we present a screening approach of potential C. elegans mutants as potential ASD models. We screened these mutants for motor-deficiency phenotypes, which can be exploited to study underlying mechanisms of the disorder. Selected motor-deficient mutants were then used in a comprehensive drug screen of over 3900 compounds, including many FDA-approved and natural molecules, that were analyzed for their ability to suppress motility defects caused by ASD-associated gene orthologues. This genetic-chemical approach, i.e. establishing C. elegans models for ASD and screening of a well-characterized compound library, might be a promising first step to understand the mechanisms of how gene variations cause neuronal dysfunction, leading to ASD and other neurological disorders. Positively acting compounds could also be promising candidates for preclinical studies.
自闭症谱系障碍(ASD)是最常见的神经发育障碍,其患病率一直在不断增加。模式生物可以作为识别潜在细胞和分子机制的工具,并有助于发现和开发新的治疗方法。像秀丽隐杆线虫这样简单的动物,可能为 ASD 遗传学的极端复杂性提供一些见解。尽管有这种潜力,但在 ASD 研究中使用秀丽隐杆线虫是一种有争议的方法,在这种情况下尚未广泛使用。在这项研究中,我们提出了一种筛选潜在秀丽隐杆线虫突变体作为潜在 ASD 模型的方法。我们筛选了这些突变体的运动缺陷表型,这可以用来研究该疾病的潜在机制。然后,选择的运动缺陷突变体被用于对超过 3900 种化合物的全面药物筛选,包括许多 FDA 批准的和天然的分子,以分析它们抑制由 ASD 相关基因直系同源物引起的运动缺陷的能力。这种遗传化学方法,即建立 ASD 的秀丽隐杆线虫模型和筛选经过良好表征的化合物库,可能是理解基因变异如何导致神经元功能障碍,从而导致 ASD 和其他神经疾病的机制的一个有前途的第一步。阳性作用的化合物也可能是临床前研究的有前途的候选物。