Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes.
Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes.
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DOI：
10.3390/ijms19051326
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发表时间：
2018-04-29
影响因子：
5.6
通讯作者：
Webster RG
中科院分区：
文献类型：
--
作者：
Webster RG
神经肌肉接头是运动神经和骨骼肌之间的接触点，其在肌肉功能中的重要作用依赖于许多蛋白质的准确定位和功能。先天性肌无力综合征(CMS)是一组具有30个或更多相关蛋白的异质性神经肌肉传递障碍。动物模型的使用在确定许多CMS相关蛋白的具体作用方面发挥了重要作用。在CMS动物模型中，小鼠神经肌肉接头(NMJ)因其易于进行详细的电生理和组织学研究以及与人类NMJ的相似性而被广泛研究。除了用于确定CMS变体的精确分子机制外，在动物模型准确反映人类表型的情况下，它们也成为研究治疗干预的有用工具。许多动物模型在解开神经肌肉传递的复杂性和揭示疾病的分子机制方面发挥了重要作用。
The neuromuscular junction is the point of contact between motor nerve and skeletal muscle, its vital role in muscle function is reliant on the precise location and function of many proteins. Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders of neuromuscular transmission with 30 or more implicated proteins. The use of animal models has been instrumental in determining the specific role of many CMS-related proteins. The mouse neuromuscular junction (NMJ) has been extensively studied in animal models of CMS due to its amenability for detailed electrophysiological and histological investigations and relative similarity to human NMJ. As well as their use to determine the precise molecular mechanisms of CMS variants, where an animal model accurately reflects the human phenotype they become useful tools for study of therapeutic interventions. Many of the animal models that have been important in deconvolving the complexities of neuromuscular transmission and revealing the molecular mechanisms of disease are highlighted.
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