The genetic basis and gene therapy of duchenne muscular dystrophy (DMD)

Introduction: Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by the lackof dystrophin protein or premature termination of dystrophin synthesis . Gene therapy is a promising therapyoption of DMD because of the genetic basis of the disease, and There are several genetic approaches to treat, likeviral delivery of the missing dystrophin gene, increased expression of the compensatory utrophin gene, exonskipping to restore the reading frame and now a days Crisper/cas technology.Methods: In this article we review the genetic basis of DMD with focus on the genetic based therapy, especiallyby use of Clustered regularly interspaced short palindromic repeats (CRISPR)–CRISPR associated protein 9(Cas9)-based therapeutics (Crisper/cas9).Results: According to the latest research using CRISPR/Cas9 technology for treatment of DMD is positive for83% of patient, however the exon skipping method is still one of the effective cure, with the exception that only13 percent of patients responded positively to this method. By CRISPR/Cas9 system especially those that usehomology-directed repair (HDR) based therapeutics, have the potential to correct gene mutations andrevolutionize the treatment of genetic diseases. In addition in vivo delivery of Cas9 protein, guide RNA anddonor DNA one of the most important part that effect on the efficiency of CRISPR/Cas therapy.Conclusion: The new emerging field of gene editing, CRISPR/Cas9 technology potentially provide an attractiveplatform for DMD gene therapy.

کلیدواژه ها:

Duchenne muscular dystrophy ، DMD ، Gene therapy ، Crisper/cas9