Motor axonopathies in a mouse model of Duchenne muscular dystrophy.

Journal Article (Journal Article)

Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by deleterious mutations in the DMD gene which encodes the dystrophin protein. Skeletal muscle weakness and eventual muscle degradation due to loss of dystrophin are well-documented pathological hallmarks of DMD. In contrast, the neuropathology of this disease remains understudied despite the emerging evidence of neurological abnormalities induced by dystrophin loss. Using quantitative morphological analysis of nerve sections, we characterize axonopathies in the phrenic and hypoglossal (XII) nerves of mdx mice. We observe dysfunction in these nerves - which innervate the diaphragm and genioglossus respectively - that we propose contributes to respiratory failure, the most common cause of death in DMD. These observations highlight the importance in the further characterization of the neuropathology of DMD. Additionally, these observations underscore the necessity in correcting both the nervous system pathology in addition to skeletal muscle deficits to ameliorate this disease.

Full Text

Duke Authors

Cited Authors

  • Dhindsa, JS; McCall, AL; Strickland, LM; Fusco, AF; Kahn, AF; ElMallah, MK

Published Date

  • June 2, 2020

Published In

Volume / Issue

  • 10 / 1

Start / End Page

  • 8967 -

PubMed ID

  • 32488044

Pubmed Central ID

  • PMC7265344

Electronic International Standard Serial Number (EISSN)

  • 2045-2322

Digital Object Identifier (DOI)

  • 10.1038/s41598-020-65824-1


  • eng

Conference Location

  • England