Toward a gene therapy for duchenne muscular dystrophy

Abstract

AbstractDuchenne muscular dystrophy (DMD) is a wasting disease of muscle caused by mutations in a single gene on the X chromosome. Because no effective treatment is available, the disease inevitably is fatal by the third decade of life. Hence, the use of gene transfer technology to correct the biochemical defect (dystrophin‐deficiency) in muscle fibers of DMD patients may provide a promising therapeutic strategy. This review outlines recent progress toward understanding the molecular pathology of DMD, including identification of novel products of the DMD gene expressed in the nervous system and their involvement in neurological defects in DMD patients. We summarize germ‐line (transgenic) and somatic gene transfer studies performed on the mdx mouse model of DMD, using recombinant cDNA molecules. In light of these results, we discuss areas for future study, such as refinement of viral‐mediated gene transfer to muscle, and the prospects for gene therapy for human DMD patients. © 1995 Wiley‐Liss, Inc.