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Glycogen accumulation in smooth muscle of a Pompe disease mouse model.

Publication ,  Journal Article
McCall, AL; Dhindsa, JS; Bailey, AM; Pucci, LA; Strickland, LM; ElMallah, MK
Published in: J Smooth Muscle Res
2021

Pompe disease is a lysosomal storage disease caused by mutations within the GAA gene, which encodes acid α-glucosidase (GAA)-an enzyme necessary for lysosomal glycogen degradation. A lack of GAA results in an accumulation of glycogen in cardiac and skeletal muscle, as well as in motor neurons. The only FDA approved treatment for Pompe disease-an enzyme replacement therapy (ERT)-increases survival of patients, but has unmasked previously unrecognized clinical manifestations of Pompe disease. These clinical signs and symptoms include tracheo-bronchomalacia, vascular aneurysms, and gastro-intestinal discomfort. Together, these previously unrecognized pathologies indicate that GAA-deficiency impacts smooth muscle in addition to skeletal and cardiac muscle. Thus, we sought to characterize smooth muscle pathology in the airway, vascular, gastrointestinal, and genitourinary in the Gaa-/- mouse model. Increased levels of glycogen were present in smooth muscle cells of the aorta, trachea, esophagus, stomach, and bladder of Gaa-/- mice, compared to wild type mice. In addition, there was an increased abundance of both lysosome membrane protein (LAMP1) and autophagosome membrane protein (LC3) indicating vacuolar accumulation in several tissues. Taken together, we show that GAA deficiency results in subsequent pathology in smooth muscle cells, which may lead to life-threatening complications if not properly treated.

Duke Scholars

Published In

J Smooth Muscle Res

DOI

EISSN

1884-8796

Publication Date

2021

Volume

57

Issue

0

Start / End Page

8 / 18

Location

Japan

Related Subject Headings

  • alpha-Glucosidases
  • Pharmacology & Pharmacy
  • Muscle, Smooth
  • Mice, Knockout
  • Mice
  • Humans
  • Glycogen Storage Disease Type II
  • Glycogen
  • Enzyme Replacement Therapy
  • Disease Models, Animal
 

Citation

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MLA
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McCall, A. L., Dhindsa, J. S., Bailey, A. M., Pucci, L. A., Strickland, L. M., & ElMallah, M. K. (2021). Glycogen accumulation in smooth muscle of a Pompe disease mouse model. J Smooth Muscle Res, 57(0), 8–18. https://doi.org/10.1540/jsmr.57.8
McCall, Angela L., Justin S. Dhindsa, Aidan M. Bailey, Logan A. Pucci, Laura M. Strickland, and Mai K. ElMallah. “Glycogen accumulation in smooth muscle of a Pompe disease mouse model.J Smooth Muscle Res 57, no. 0 (2021): 8–18. https://doi.org/10.1540/jsmr.57.8.
McCall AL, Dhindsa JS, Bailey AM, Pucci LA, Strickland LM, ElMallah MK. Glycogen accumulation in smooth muscle of a Pompe disease mouse model. J Smooth Muscle Res. 2021;57(0):8–18.
McCall, Angela L., et al. “Glycogen accumulation in smooth muscle of a Pompe disease mouse model.J Smooth Muscle Res, vol. 57, no. 0, 2021, pp. 8–18. Pubmed, doi:10.1540/jsmr.57.8.
McCall AL, Dhindsa JS, Bailey AM, Pucci LA, Strickland LM, ElMallah MK. Glycogen accumulation in smooth muscle of a Pompe disease mouse model. J Smooth Muscle Res. 2021;57(0):8–18.

Published In

J Smooth Muscle Res

DOI

EISSN

1884-8796

Publication Date

2021

Volume

57

Issue

0

Start / End Page

8 / 18

Location

Japan

Related Subject Headings

  • alpha-Glucosidases
  • Pharmacology & Pharmacy
  • Muscle, Smooth
  • Mice, Knockout
  • Mice
  • Humans
  • Glycogen Storage Disease Type II
  • Glycogen
  • Enzyme Replacement Therapy
  • Disease Models, Animal