Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy

IUBMB Life. 2002 Mar;53(3):147-52. doi: 10.1080/15216540212333.

Abstract

Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscular dystrophies. The isolation of the defective gene in DMD/BMD has led to a better understanding of the disease process and has promoted studies regarding the application of molecular therapy. The purpose of this review is to present the progress made in this area of research with particular reference to dystrophin Kobe. Based on the results from the molecular analysis of dystrophin Kobe, we propose a novel molecular therapeutic method for DMD in which antisense oligonucleotides transform DMD into a milder phenotype by inducing exon skipping. In addition, current proposals for the molecular therapy of DMD are discussed.

Publication types

  • Review

MeSH terms

  • Animals
  • Consensus Sequence
  • Disease Models, Animal
  • Dystrophin / genetics
  • Genetic Therapy*
  • Humans
  • Mice
  • Mice, Inbred mdx
  • Muscular Dystrophy, Duchenne / diagnosis
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / therapy
  • RNA Splicing
  • Reading Frames

Substances

  • Dystrophin