Treating Duchenne Cardiomyopathy in the mouse Model by Gene Repair

Abstract

The goal of this project is to test adeno-associated virus (AAV) CRISPR (clustered regularly interspaced palindromic repeat) gene editing therapy for Duchenne cardiomyopathy in the mdx model. In the previous funding period, we performed AAV CRISPR therapy in young adult male mdx mice. We observed widespread dystrophin restoration in the heart on immunostaining. However, we did not detect dystrophin expression in skeletal muscle. Further cardiac dystrophin restoration is too low to restore hemodynamic function. Surprisingly, the body weight of the treated mice showed a statistically significant reduction. Unexpected weight loss cautions potential side effects of CRISPR therapy. In the current funding period, we discovered the underlying mechanism that is responsible for the low CRISPRefficiency in our original study. We also repeated the study in a larger cohort of female mdx mice to determine whether weight loss is a real safety concern. Our new study showed widespread dystrophin restoration in both skeletal muscle and the heart, significant improvement in cardiac hemodynamic function and a lack of body weight reduction. Our results support further development of systemic CRISPR therapy for Duchenne muscular dystrophy.

Open PDF

Document Details

Document Type
Technical Report
Publication Date
Aug 01, 2018
Accession Number
AD1063933

Entities

People

  • Adrianne Pittman
  • Charles A. Gersbach
  • Christopher P Nelson
  • Dongsheng Duan
  • Gary Yao
  • Lai Yi
  • Matthew Gemberling
  • Nalinda Wasala
  • Yongping Yue

Organizations

  • University of Missouri System

Tags

DTIC Thesaurus Topics

  • Cardiovascular System
  • Cells
  • Chemical Synthesis
  • Chemistry
  • Genetics
  • Health Services
  • Muscular Diseases
  • Neurodegenerative Diseases
  • Skeletal Muscle
  • Stem Cells
  • Virotherapy

Fields of Study

  • Biology
  • Medicine

Readers

  • Exercise and Sports Science.
  • Immunology and Pathology
  • Molecular Genetics

Technology Areas

  • Biotechnology