The Respiratory Phenotype of Pompe Disease Mouse Models.

Journal Article (Journal Article;Review)

Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase (GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in GAA results in muscle and neuronal glycogen accumulation, which causes respiratory insufficiency. Pompe disease mouse models provide a means of assessing respiratory pathology and are important for pre-clinical studies of novel therapies that aim to treat respiratory dysfunction and improve quality of life. This review aims to compile and summarize existing manuscripts that characterize the respiratory phenotype of Pompe mouse models. Manuscripts included in this review were selected utilizing specific search terms and exclusion criteria. Analysis of these findings demonstrate that Pompe disease mouse models have respiratory physiological defects as well as pathologies in the diaphragm, tongue, higher-order respiratory control centers, phrenic and hypoglossal motor nuclei, phrenic and hypoglossal nerves, neuromuscular junctions, and airway smooth muscle. Overall, the culmination of these pathologies contributes to severe respiratory dysfunction, underscoring the importance of characterizing the respiratory phenotype while developing effective therapies for patients.

Full Text

Duke Authors

Cited Authors

  • Fusco, AF; McCall, AL; Dhindsa, JS; Zheng, L; Bailey, A; Kahn, AF; ElMallah, MK

Published Date

  • March 24, 2020

Published In

Volume / Issue

  • 21 / 6

PubMed ID

  • 32214050

Pubmed Central ID

  • PMC7139647

Electronic International Standard Serial Number (EISSN)

  • 1422-0067

Digital Object Identifier (DOI)

  • 10.3390/ijms21062256


  • eng

Conference Location

  • Switzerland