Allamand V, Campbell K P
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, 400 Eckstein Medical Research Building, Iowa City, IA 52242, USA.
Hum Mol Genet. 2000 Oct;9(16):2459-67. doi: 10.1093/hmg/9.16.2459.
Since the identification of dystrophin as the causative factor in Duchenne muscular dystrophy, an increasing amount of information on the molecular basis of muscular dystrophies has facilitated the division of these heterogeneous disorders into distinct groups. As more light is being shed on the genes and proteins involved in muscular dystrophy, diagnosis of patients has improved enormously. In addition to naturally occurring animal models, a number of genetically engineered murine models for muscular dystrophy have been generated. These animal models have provided valuable clues to the understanding of the pathogenesis of these disorders. Furthermore, as therapeutic approaches are being developed, mutant animals represent good models in which they can be tested. The present review focuses on the recent advancements of gene transfer-based strategies, with a special emphasis on animal models for Duchenne and limb-girdle muscular dystrophies.
自从肌营养不良蛋白被确定为杜氏肌营养不良症的致病因素以来，关于肌营养不良症分子基础的信息量不断增加，这有助于将这些异质性疾病分为不同的组。随着越来越多关于肌营养不良症相关基因和蛋白质的信息被揭示，患者的诊断有了极大改善。除了自然发生的动物模型外，还产生了许多用于肌营养不良症的基因工程小鼠模型。这些动物模型为理解这些疾病的发病机制提供了宝贵线索。此外，随着治疗方法的不断发展，突变动物是进行测试的良好模型。本综述重点关注基于基因转移策略的最新进展，特别强调杜氏和肢带型肌营养不良症的动物模型。
