CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies

Yu C.J. Chey, Jayshen Arudkumar, Annemieke Aartsma-Rus, Fatwa Adikusuma, Paul Q. Thomas

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

CRISPR gene-editing technology creates precise and permanent modifications to DNA. It has significantly advanced our ability to generate animal disease models for use in biomedical research and also has potential to revolutionize the treatment of genetic disorders. Duchenne muscular dystrophy (DMD) is a monogenic muscle-wasting disease that could potentially benefit from the development of CRISPR therapy. It is commonly associated with mutations that disrupt the reading frame of the DMD gene that encodes dystrophin, an essential scaffolding protein that stabilizes striated muscles and protects them from contractile-induced damage. CRISPR enables the rapid generation of various animal models harboring mutations that closely simulates the wide variety of mutations observed in DMD patients. These models provide a platform for the testing of sequence-specific interventions like CRISPR therapy that aim to reframe or skip DMD mutations to restore functional dystrophin expression. This article is categorized under: Congenital Diseases > Genetics/Genomics/Epigenetics.

Original languageEnglish
Article numbere1580
JournalWIREs Mechanisms of Disease
Volume15
Issue number1
DOIs
Publication statusPublished or Issued - 1 Jan 2023

Keywords

  • animal models
  • CRISPR therapy
  • CRISPR/Cas9
  • Duchenne muscular dystrophy
  • mice models

ASJC Scopus subject areas

  • Cell Biology
  • Medicine (miscellaneous)

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