期刊
JOURNAL OF ORTHOPAEDIC RESEARCH
卷 27, 期 4, 页码 421-426出版社
JOHN WILEY & SONS INC
DOI: 10.1002/jor.20781
关键词
human minidystrophin gene; AAV; dystrophin/utrophin double-deficient mice (dys-/-:utrn-/-, dKO); mdx mice; gene therapy
类别
资金
- National fnstitutes of flealth (NIH)
- Muscular Dystrophy Association (MDA)
Duchenne muscular dystrophy (DMD) is the most common and lethal genetic muscle disease, caused by mutations in the dystrophin gene. No efficacious treatment is currently available. Here we report AAV vector systemic delivery and therapeutic benefit of the functional human minidystropin gene in a severe and more reliable DMD mouse model, the dystrophin/utrophin double deficiency mouse (dvs-/-:utrn-/-, dKO). These mice show man), pathologic and phenotypic signs typical of DMD in humans including kyphosis and shorter life span, all of which are not seen in the mdx mice due to their utrophin upregulation that partially compensates the loss of dystrophin functions and leads to mild phenotypes. The therapeutic value of this new approach was demonstrated in both mdx and dKO murine models, in which we observed highly efficient minidystrophin gene expression, ameliorated muscle pathologies, improvement in growth and motility, inhibition of spine and limb deformation, and prolongation of life span, (C) 2008 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 27:421-426, 2009
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