Aartsma-Rus Annemieke, van Putten Maaike
Department of Human Genetics, Leiden University Medical Center.
Department of Human Genetics, Leiden University Medical Center;
J Vis Exp. 2014 Mar 27(85):51303. doi: 10.3791/51303.
Duchenne muscular dystrophy (DMD) is a severe and progressive muscle wasting disorder for which no cure is available. Nevertheless, several potential pharmaceutical compounds and gene therapy approaches have progressed into clinical trials. With improvement in muscle function being the most important end point in these trials, a lot of emphasis has been placed on setting up reliable, reproducible, and easy to perform functional tests to pre clinically assess muscle function, strength, condition, and coordination in the mdx mouse model for DMD. Both invasive and noninvasive tests are available. Tests that do not exacerbate the disease can be used to determine the natural history of the disease and the effects of therapeutic interventions (e.g. forelimb grip strength test, two different hanging tests using either a wire or a grid and rotarod running). Alternatively, forced treadmill running can be used to enhance disease progression and/or assess protective effects of therapeutic interventions on disease pathology. We here describe how to perform these most commonly used functional tests in a reliable and reproducible manner. Using these protocols based on standard operating procedures enables comparison of data between different laboratories.
杜兴氏肌肉营养不良症（DMD）是一种严重的进行性肌肉萎缩疾病，目前尚无治愈方法。然而，几种潜在的药物化合物和基因治疗方法已进入临床试验阶段。由于肌肉功能改善是这些试验中最重要的终点，因此在建立可靠、可重复且易于执行的功能测试方面投入了大量精力，以便在临床前评估DMD的mdx小鼠模型的肌肉功能、力量、状况和协调性。有侵入性和非侵入性测试可供选择。不会加重疾病的测试可用于确定疾病的自然史和治疗干预的效果（例如前肢握力测试、使用金属丝或网格的两种不同悬挂测试以及转棒试验）。或者，强迫跑步机跑步可用于加速疾病进展和/或评估治疗干预对疾病病理的保护作用。我们在此描述如何以可靠且可重复的方式进行这些最常用的功能测试。使用基于标准操作程序的这些方案能够比较不同实验室之间的数据。
