Development of CRISPR-Mediated Systems in the Study of Duchenne Muscular Dystrophy.
Hum Gene Ther Methods
; 30(3): 71-80, 2019 06.
Article
in En
| MEDLINE
| ID: mdl-31062609
ABSTRACT
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 mRNA 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 treat 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). This article summarizes the present status of current and future treatments for DMD.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Muscular Dystrophy, Duchenne
/
CRISPR-Cas Systems
Limits:
Animals
/
Humans
Language:
En
Journal:
Hum Gene Ther Methods
Year:
2019
Document type:
Article