Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy

Frontiers in Medicine

article

Cedric Happi Mbakam¹  Gabriel Lamothe¹  Jacques P. Tremblay¹ 

[1] Centre de Recherche du CHU de Québec-Université Laval;Department of Molecular Medicine, Faculty of Medicine, Laval University

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

DOI  :  10.3389/fmed.2022.859930

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY