Molecular Medicine, and Neuromuscular Lab, IRCCS Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.
Neuromolecular Med. 2013 Jun;15(2):405-19. doi: 10.1007/s12017-013-8228-z. Epub 2013 Apr 13.
Neuromuscular disorders are a broad group of inherited conditions affecting the structure and function of the motor system with polymorphic clinical presentation and disease severity. Although individually rare, collectively neuromuscular diseases have an incidence of 1 in 3,000 and represent a significant cause of disability of the motor system. The past decade has witnessed the identification of a large number of human genes causing muscular disorders, yet the underlying pathogenetic mechanisms remain largely unclear, limiting the developing of targeted therapeutic strategies. To overcome this barrier, model systems that replicate the different steps of human disorders are increasingly being developed. Among these, the zebrafish (Danio rerio) has emerged as an excellent organism for studying genetic disorders of the central and peripheral motor systems. In this review, we will encounter most of the available zebrafish models for childhood neuromuscular disorders, providing a brief overview of results and the techniques, mainly transgenesis and chemical biology, used for genetic manipulation. The amount of data collected in the past few years will lead zebrafish to became a common functional tool for assessing rapidly drug efficacy and off-target effects in neuromuscular diseases and, furthermore, to shed light on new etiologies emerging from large-scale massive sequencing studies.
神经肌肉疾病是一组广泛的遗传性疾病,影响运动系统的结构和功能,具有多态性的临床表现和疾病严重程度。尽管每种疾病的发病率都很低,但总体而言,神经肌肉疾病的发病率为每 3000 人中有 1 人,是导致运动系统残疾的一个重要原因。在过去的十年中,已经鉴定出了大量导致肌肉疾病的人类基因,但潜在的发病机制在很大程度上仍不清楚,限制了靶向治疗策略的发展。为了克服这一障碍,越来越多的复制人类疾病不同步骤的模型系统正在被开发。在这些模型中,斑马鱼(Danio rerio)已成为研究中枢和周围运动系统遗传疾病的优秀模型生物。在这篇综述中,我们将遇到大多数可用于研究儿童神经肌肉疾病的斑马鱼模型,简要概述用于遗传操作的结果和技术,主要是转基因和化学生物学。在过去几年中收集的数据量将使斑马鱼成为评估神经肌肉疾病药物疗效和脱靶效应的常用功能工具,并且还可以揭示大规模大规模测序研究中出现的新病因。