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The impact of Pompe disease on smooth muscle: a review.

Publication ,  Journal Article
McCall, AL; Salemi, J; Bhanap, P; Strickland, LM; Elmallah, MK
Published in: J Smooth Muscle Res
2018

Pompe disease (OMIM 232300) is an autosomal recessive disorder caused by mutations in the gene encoding acid α-glucosidase (GAA) (EC 3.2.1.20), the enzyme responsible for hydrolyzing lysosomal glycogen. The primary cellular pathology is lysosomal glycogen accumulation in cardiac muscle, skeletal muscle, and motor neurons, which ultimately results in cardiorespiratory failure. However, the severity of pathology and its impact on clinical outcomes are poorly described in smooth muscle. The advent of enzyme replacement therapy (ERT) in 2006 has improved clinical outcomes in infantile-onset Pompe disease patients. Although ERT increases patient life expectancy and ventilator free survival, it is not entirely curative. Persistent motor neuron pathology and weakness of respiratory muscles, including airway smooth muscles, contribute to the need for mechanical ventilation by some patients on ERT. Some patients on ERT continue to experience life-threatening pathology to vascular smooth muscle, such as aneurysms or dissections within the aorta and cerebral arteries. Better characterization of the disease impact on smooth muscle will inform treatment development and help anticipate later complications. This review summarizes the published knowledge of smooth muscle pathology associated with Pompe disease in animal models and in patients.

Duke Scholars

Published In

J Smooth Muscle Res

DOI

EISSN

1884-8796

Publication Date

2018

Volume

54

Issue

0

Start / End Page

100 / 118

Location

Japan

Related Subject Headings

  • Pharmacology & Pharmacy
  • Muscle, Smooth
  • Humans
  • Glycogen Storage Disease Type II
  • Animals
  • 3208 Medical physiology
  • 1116 Medical Physiology
  • 0606 Physiology
 

Citation

APA
Chicago
ICMJE
MLA
NLM
McCall, A. L., Salemi, J., Bhanap, P., Strickland, L. M., & Elmallah, M. K. (2018). The impact of Pompe disease on smooth muscle: a review. J Smooth Muscle Res, 54(0), 100–118. https://doi.org/10.1540/jsmr.54.100
McCall, Angela L., Jeffrey Salemi, Preeti Bhanap, Laura M. Strickland, and Mai K. Elmallah. “The impact of Pompe disease on smooth muscle: a review.J Smooth Muscle Res 54, no. 0 (2018): 100–118. https://doi.org/10.1540/jsmr.54.100.
McCall AL, Salemi J, Bhanap P, Strickland LM, Elmallah MK. The impact of Pompe disease on smooth muscle: a review. J Smooth Muscle Res. 2018;54(0):100–18.
McCall, Angela L., et al. “The impact of Pompe disease on smooth muscle: a review.J Smooth Muscle Res, vol. 54, no. 0, 2018, pp. 100–18. Pubmed, doi:10.1540/jsmr.54.100.
McCall AL, Salemi J, Bhanap P, Strickland LM, Elmallah MK. The impact of Pompe disease on smooth muscle: a review. J Smooth Muscle Res. 2018;54(0):100–118.

Published In

J Smooth Muscle Res

DOI

EISSN

1884-8796

Publication Date

2018

Volume

54

Issue

0

Start / End Page

100 / 118

Location

Japan

Related Subject Headings

  • Pharmacology & Pharmacy
  • Muscle, Smooth
  • Humans
  • Glycogen Storage Disease Type II
  • Animals
  • 3208 Medical physiology
  • 1116 Medical Physiology
  • 0606 Physiology