Cai A, Kong X. Development of CRISPR-Mediated Systems in the Study of Duchenne Muscular Dystrophy. Human gene therapy methods 2019;30:71-80.
Duchenne muscular dystrophy (DMD) is a severe type of X-linked recessive degenerative muscle disease, caused by mutations in the dystrophin (DMD) gene on the X chromosome. The DMD gene is complex, consisting of 79 exons, and mutations cause changes in the DMD RNA so that the reading frame is altered, and the muscle-specific isoform of the dystrophin protein is either absent or truncated with variable residual function. The emerging CRISPR-Cas9-mediated genome editing technique is being developed as a potential therapeutic approach to treating DMD, because it can permanently replace the mutated dystrophin gene with the normal gene. Prenatal DNA testing can inform whether the female fetus is a carrier of DMD, and the male fetus has inherited a mutation from his mother (50% chance of both). In this paper, we summarize the present status of current and future treatments for DMD.