PDF(Pubmed)
Abstract：
Fragile X syndrome (FXS) is caused by the full mutation in the FMR1 gene on the Xq27.3 chromosome region. It is the most common monogenic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID). Besides ASD and ID and other symptoms, individuals with FXS may exhibit sleep problems and impairment of circadian rhythm (CR). The Drosophila melanogaster models of FXS, such as dFMR1B55, represent excellent models for research in the FXS field. During this study, sleep patterns and CR in dFMR1B55 mutants were analyzed, using a new platform based on continuous high-resolution videography integrated with a highly-customized version of an open-source software. This methodology provides more sensitive results, which could be crucial for all further research in this model of fruit flies. The study revealed that dFMR1B55 male mutants sleep more and can be considered weak rhythmic flies rather than totally arrhythmic and present a good alternative animal model of genetic disorder, which includes impairment of CR and sleep behavior. The combination of affordable videography and software used in the current study is a significant improvement over previous methods and will enable broader adaptation of such high-resolution behavior monitoring methods.
摘要：
脆性X综合征（FXS）是由Xq27.3染色体区域上FMR1基因的完全突变引起的。它是自闭症谱系障碍（ASD）和遗传性智力障碍（ID）的最常见的单基因原因。除了ASD和ID和其他症状，FXS患者可能出现睡眠问题和昼夜节律(CR)受损.FXS的果蝇模型，例如DFMR1B55，代表了FXS领域研究的优秀模型。在这项研究中,分析了dFMR1B55突变体的睡眠模式和CR，使用基于连续高分辨率视频的新平台，该平台与高度定制的开源软件版本集成在一起。这种方法提供了更敏感的结果，这对于这个果蝇模型的所有进一步研究都是至关重要的。该研究表明，dFMR1B55雄性突变体睡眠更多，可以被认为是弱节律性苍蝇，而不是完全心律失常，并提供了一个很好的遗传障碍替代动物模型，其中包括CR受损和睡眠行为。当前研究中使用的负担得起的摄像和软件的结合是对以前方法的重大改进，并且将使这种高分辨率行为监测方法能够更广泛地适应。
