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Duchenne and Becker Muscular Dystrophy: From Gene Diagnosis to Molecular Therapy
Author(s) -
Matsuo Masafumi
Publication year - 2002
Publication title -
iubmb life
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.132
H-Index - 113
eISSN - 1521-6551
pISSN - 1521-6543
DOI - 10.1080/15216540212333
Subject(s) - dystrophin , duchenne muscular dystrophy , exon skipping , muscular dystrophy , genetic enhancement , medicine , exon , bioinformatics , oligonucleotide , phenotype , disease , gene , genetics , biology , pathology , alternative splicing
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.