Department of Zoology, Genetics and Physical Anthropology, Faculty of Veterinary Science, Universidade de Santiago de Compostela, 27002 Lugo, Spain.
Department of Functional Biology, CIBUS, Faculty of Biology, Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain.
Cells. 2021 Apr 8;10(4):836. doi: 10.3390/cells10040836.
Autosomal recessive ataxias are much less well studied than autosomal dominant ataxias and there are no clearly defined systems to classify them. Autosomal recessive ataxias, which are characterized by neuronal and multisystemic features, have significant overlapping symptoms with other complex multisystemic recessive disorders. The generation of animal models of neurodegenerative disorders increases our knowledge of their cellular and molecular mechanisms and helps in the search for new therapies. Among animal models, the zebrafish, which shares 70% of its genome with humans, offer the advantages of being small in size and demonstrating rapid development, making them optimal for high throughput drug and genetic screening. Furthermore, embryo and larval transparency allows to visualize cellular processes and central nervous system development in vivo. In this review, we discuss the contributions of zebrafish models to the study of autosomal recessive ataxias characteristic phenotypes, behavior, and gene function, in addition to commenting on possible treatments found in these models. Most of the zebrafish models generated to date recapitulate the main features of recessive ataxias.
常染色体隐性共济失调的研究远不如常染色体显性共济失调充分，目前也没有明确的分类系统。常染色体隐性共济失调以神经元和多系统特征为特征，与其他复杂的多系统隐性疾病有明显的重叠症状。神经退行性疾病动物模型的产生增加了我们对其细胞和分子机制的了解，并有助于寻找新的治疗方法。在动物模型中，与人类基因组有 70%相似度的斑马鱼具有体积小、发育迅速的优点，非常适合高通量药物和基因筛选。此外，胚胎和幼虫的透明性使得能够在体内可视化细胞过程和中枢神经系统的发育。在这篇综述中，我们讨论了斑马鱼模型对常染色体隐性共济失调特征表型、行为和基因功能的研究的贡献，此外还评论了这些模型中发现的可能的治疗方法。迄今为止生成的大多数斑马鱼模型都重现了隐性共济失调的主要特征。
