Braun Robynne, Wang Zejing, Mack David L, Childers Martin K
From the Department of Rehabilitation Medicine and Institute for Stem Cell and Regenerative Medicine, University of Washington (RB, DLM, MKC); and Fred Hutchinson Cancer Research Center (ZW), Seattle, Washington.
Am J Phys Med Rehabil. 2014 Nov;93(11 Suppl 3):S97-107. doi: 10.1097/PHM.0000000000000138.
The development of clinical vectors to correct genetic mutations that cause inherited myopathies and related disorders of skeletal muscle is advancing at an impressive rate. Adeno-associated virus vectors are attractive for clinical use because (1) adeno-associated viruses do not cause human disease and (2) these vectors are able to persist for years. New vectors are now becoming available as gene therapy delivery tools, and recent preclinical experiments have demonstrated the feasibility, safety, and efficacy of gene therapy with adeno-associated virus for long-term correction of muscle pathology and weakness in myotubularin-deficient canine and murine disease models. In this review, recent advances in the application of gene therapies to treat inherited muscle disorders are presented, including Duchenne muscular dystrophy and x-linked myotubular myopathy. Potential areas for therapeutic synergies between rehabilitation medicine and genetics are also discussed.
用于纠正导致遗传性肌病和相关骨骼肌疾病的基因突变的临床载体正以惊人的速度发展。腺相关病毒载体因其（1）腺相关病毒不会引发人类疾病以及（2）这些载体能够持续数年而成为临床应用的理想选择。新的载体如今正作为基因治疗递送工具投入使用，近期的临床前实验已证明，在肌管素缺陷型犬类和鼠类疾病模型中，使用腺相关病毒进行基因治疗以长期纠正肌肉病理状态和肌无力具有可行性、安全性和有效性。在本综述中，介绍了基因治疗在治疗遗传性肌肉疾病（包括杜氏肌营养不良症和X连锁肌管性肌病）方面的最新进展。还讨论了康复医学与遗传学之间潜在的治疗协同领域。
