Whitmore Charlotte, Morgan Jennifer
Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, Institute of Child Health, University College London, London, UK.
Int J Exp Pathol. 2014 Dec;95(6):365-77. doi: 10.1111/iep.12095. Epub 2014 Sep 30.
There are over 30 mouse models with mutations or inactivations in the dystrophin-associated protein complex. This complex is thought to play a crucial role in the functioning of muscle, as both a shock absorber and signalling centre, although its role in the pathogenesis of muscular dystrophy is not fully understood. The first mouse model of muscular dystrophy to be identified with a mutation in a component of the dystrophin-associated complex (dystrophin) was the mdx mouse in 1984. Here, we evaluate the key characteristics of the mdx in comparison with other mouse mutants with inactivations in DAPC components, along with key modifiers of the disease phenotype. By discussing the differences between the individual phenotypes, we show that the functioning of the DAPC and consequently its role in the pathogenesis is more complicated than perhaps currently appreciated.
有超过30种在肌营养不良蛋白相关蛋白复合物中存在突变或失活的小鼠模型。尽管该复合物在肌肉营养不良发病机制中的作用尚未完全明确，但它被认为在肌肉功能中起着关键作用，既是一个减震器又是一个信号中心。1984年发现的mdx小鼠是第一个在肌营养不良蛋白相关复合物（肌营养不良蛋白）的一个成分中发生突变的肌肉营养不良小鼠模型。在这里，我们将mdx小鼠与其他在DAPC成分中失活的小鼠突变体以及疾病表型的关键修饰因子进行比较，评估其关键特征。通过讨论个体表型之间的差异，我们表明DAPC的功能及其在发病机制中的作用比目前可能认识到的更为复杂。
