Gene Therapy in Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wastingdisease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Mostcases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression ofBMD and recent achievement of gene therapies make it as an appropriate candidate for this strategy to restoredystrophin production in most affected tissues. This review has focused on elucidating the role of gene therapy induchenne muscle dystrophy. Some strategies in gene therapy of BMD exon skipping, protein upregulation, stemcell transplants and mutation suppression in order to restore dystrophin production. Serious adverse events havebeen limited them. One of the novel and functional strategy to replace dystrophin is using shuttle vectors derivedfrom adeno-associated virus (AAV). This method has been tested in numerous human clinical trials without lifethreatening adverse effects. Major limitations of AAV vectors include limited cloning capacity and activation ofimmune response. Therefore using miniaturized dystrophin and effective methods in order to attenuate immunesystem can promote this strategy.

Keywords:

Duchenne , muscular dystrophy , Adeno-associated viral (AAV) vectors , gene therapy