Deletion of DMD exon 52 in the pig results in fulminant muscular dystrophy

ABSTRACT: Duchenne muscular dystrophy (DMD) is caused by mutations in the X-linked dystrophin (DMD) gene. The absence of dystrophin protein leads to progressive muscle weakness and wasting, disability and death. To establish a tailored large animal model of DMD, we deleted DMD exon 52 in male pig cells by gene targeting and generated offspring by nuclear transfer. DMD pigs exhibit absence of dystrophin in skeletal muscles, increased serum creatine kinase levels, progressive dystrophic changes of skeletal muscles, impaired mobility, muscle weakness, and a maximum life span of 3 months due to respiratory impairment. To address the accelerated development of muscular dystrophy in DMD pigs as compared to human patients, we performed a genome-wide transcriptome study of M. biceps femoris samples from 2-d

ORGANISM(S): Sus scrofa

SUBMITTER: Stefan Krebs 

PROVIDER: E-GEOD-44096 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress