Development of CRISPR-Mediated Systems in the Study of Duchenne Muscular Dystrophy.
Hum Gene Ther Methods
; 30(3): 71-80, 2019 06.
Article
em 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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofia Muscular de Duchenne
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Sistemas CRISPR-Cas
Limite:
Animals
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Humans
Idioma:
En
Revista:
Hum Gene Ther Methods
Ano de publicação:
2019
Tipo de documento:
Article