Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy

Cedric Happi Mbakam; Gabriel Lamothe; Jacques P Tremblay

doi:10.3389/fmed.2022.859930

Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy

Front Med (Lausanne). 2022 Mar 28:9:859930. doi: 10.3389/fmed.2022.859930. eCollection 2022.

Authors

Cedric Happi Mbakam^{1

2}, Gabriel Lamothe^{1

2}, Jacques P Tremblay^{1

2}

Affiliations

¹ Centre de Recherche du CHU de Québec-Université Laval, Quebec City, QC, Canada.
² Department of Molecular Medicine, Faculty of Medicine, Laval University, Quebec City, QC, Canada.

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked hereditary disease characterized by progressive muscle wasting due to modifications in the DMD gene (exon deletions, nonsense mutations, intra-exonic insertions or deletions, exon duplications, splice site defects, and deep intronic mutations) that result in a lack of functional dystrophin expression. Many therapeutic approaches have so far been attempted to induce dystrophin expression and improve the patient phenotype. In this manuscript, we describe the relevant updates for some therapeutic strategies for DMD aiming to restore dystrophin expression. We also present and analyze in vitro and in vivo ongoing experimental approaches to treat the disease.

Keywords: CRISPR/Cas 9; Duchenne muscular dystrophy; artificial chromosome; dystrophin; exon skipping; gene replacement; progenitor cell; read through treatment.

Publication types

Review