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首页> 外文期刊>Neuromuscular disorders: NMD >Muscular dystrophy in dysferlin-deficient mouse models
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Muscular dystrophy in dysferlin-deficient mouse models

机译：缺乏铁蛋白的小鼠模型中的肌营养不良症

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摘要

Mutations in the dysferlin gene result in the development of a range of early adult-onset, progressive muscular dystrophies, collectively known as the dysferlinopathies. There is currently no effective treatment for these disorders. Several spontaneous and engineered alleles at the mouse dysferlin locus have been isolated and these dysferlin-deficient mouse strains are providing valuable insights into the role dysferlin plays in skeletal muscle physiology, heart function, and the regulation of the innate immune system. In addition, mouse models of dysferlinopathy are now widely used to test novel therapeutic strategies. Each dysferlin-deficient mouse strain has been characterised to varying degrees using a variety of histological and functional assays, occasionally producing results inconsistent with other strains. Here, we review each mouse model and physiological changes in various systems which accompany their muscle disease with emphasis on the how the disease process develops in different mouse models of dysferlinopathy. This review highlights the urgent requirement for standardised assays and outcome measures that will unify and coordinate research efforts throughout the field, procedures that are necessary if potential therapies are to be tested efficiently and effectively.
机译：dysferlin基因的突变导致一系列成人成年早期进行性肌营养不良症的发展，统称为dysferlinopathies。当前没有针对这些疾病的有效治疗。已经分离了小鼠dysferlin基因座处的几个自发和工程等位基因，这些dysferlin缺陷小鼠品系为dysferlin在骨骼肌生理，心脏功能和先天免疫系统调节中的作用提供了有价值的见解。此外，dysferlinopathy的小鼠模型现已广泛用于测试新型治疗策略。使用各种组织学和功能分析，已对每种含铁蛋白缺失的小鼠品系进行了不同程度的表征，偶尔会产生与其他品系不一致的结果。在这里，我们回顾了每只小鼠模型和肌肉疾病所伴随的各种系统中的生理变化，重点是在不同的神经纤维异常小鼠模型中疾病过程如何发展。这篇综述强调了对标准化测定和结果测量的迫切需求，这些测定和结果测量将统一和协调整个领域的研究工作，这是有效和有效地测试潜在疗法所必需的程序。

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