The Respiratory Phenotype of Pompe Disease Mouse Models

Author:

Fusco Anna F.ORCID,McCall Angela L.ORCID,Dhindsa Justin S.,Zheng Lucy,Bailey Aidan,Kahn Amanda F.,ElMallah Mai K.ORCID

Abstract

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.

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

Cited by 9 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. GAA deficiency disrupts distal airway cells in Pompe disease;American Journal of Physiology-Lung Cellular and Molecular Physiology;2023-09-01

2. Pathophysiology of Lysosomes in a Nutshell;International Journal of Molecular Sciences;2023-06-26

3. High-specific activity variants of recombinant human α-glucosidase for the treatment of Pompe disease;Medical Hypotheses;2023-04

4. Induced pluripotent stem cell for modeling Pompe disease;Frontiers in Cardiovascular Medicine;2022-12-22

5. Infantile Pompe disease with intrauterine onset: a case report and literature review;Italian Journal of Pediatrics;2022-11-21

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