Author information Article notes Copyright and License information Disclaimer. Corresponding Author: Mai K. Phone: e-mail:. Received Nov 10; Accepted Dec This article has been cited by other articles in PMC. Keywords: Pompe disease, smooth muscle, airway, vasculature, gastrointestinal. Table 1. Summary of Pompe disease clinical reports citing smooth muscle pathology. Open in a separate window. Results Literature search Our search yielded results published in English.
Airway smooth muscle Respiratory insufficiency is among the most common symptom that Pompe disease patients experience; often it is the first that raises concern of a problem 8 , 40 , Effects of ERT Despite the advent of ERT, case reports indicate that many patients still require some form of mechanical ventilation 31 , 49 , 54 , Vascular smooth muscle In , Manktelow and Hartley presented the first report of naturally occurring generalized glycogenosis in an animal, which described necropsy of Corriedale sheep in New Zealand Gastrointestinal system smooth muscle In IOPD, reported gastrointestinal GI -related symptoms include gastroesophageal reflux GER , oropharyngeal dysphagia, and feeding difficulties 3 , 54 , 90 , Effects of ERT In a mouse model, glycogen accumulation was significantly reduced in the smooth muscle of the stomach and salivary glands after initiating ERT Genitourinary tract smooth muscle Glycogen accumulation and vacuolated smooth muscle is found in the muscularis propria of both the urinary bladder and urethra of IOPD patients , Ocular Smooth Muscle Children with IOPD have vacuolar myopathy of the ciliary body smooth muscle and the iris sphincter smooth muscle 65 , Dermatologic smooth muscle Within the skin, glycogen accumulation and vacuolization occurs in the arrector pili muscles and eccrine glands 65 , Competing interests The authors declare that they have no competing interests.
Acknowledgments The authors would like to thank Marina Zeiger, PhD for her contributions to the development and preparation of the trachea staining. References 1. Hers HG. Biochem J. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
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Neural deficits contribute to respiratory insufficiency in Pompe disease. Retrograde gene delivery to hypoglossal motoneurons using adeno-associated virus serotype 9. Hum Gene Ther Methods. Hypoglossal neuropathology and respiratory activity in pompe mice. Front Physiol. Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice. Mol Ther. Late-onset Pompe disease with left-sided bronchomalacia.
Respir Care. A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. Mol Genet Metab Rep. Secondary endocardial fibroelastosis associated with Pompe disease and multicystic dysplastic kidney. Heart Vessels. Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. Similarly, other muscle diseases have been described to present a high number of centronucleated fibers in the absence of the regeneration process.
Notably, it is the case of the centronuclear myopathies that are due to mutations in gene encoding nuclear membrane proteins, which are known to contribute to nuclei movement through interaction with the cytoskeleton, specially microtubules [ 15 , 29 ]. It would be informative to perform an in-depth exploration of the cytoskeleton structure over the course of the disease and investigate the relationship between myonuclei and proteins contributing to their movement.
Autophagy is known to be a key regulatory process in skeletal muscle homeostasis by playing a role in its development, growth and regeneration [ 22 , 40 ]. Several muscle disorders, such muscular dystrophies [ 7 , 13 , 22 , 50 ], lysosomal storage diseases [ 34 , 68 , 85 ] or vacuolar myopathies, are characterized by impaired autophagy [ 39 ].
Recent works have exhibited the role of autophagy in SC activation [ 13 , 47 , 76 ]. Indeed, the induction of autophagy has been shown to support the bioenergetic demands of quiescent SC activation.
Furthermore, the inhibition of autophagy suppressed the increase in ATP levels and delayed SC activation [ 76 ]. Additionally, genetic impairment of autophagy in young SCs has been shown to cause entry into senescence due to the loss of proteostasis, increased mitochondrial dysfunction and oxidative stress [ 18 ].
Considering these findings and given the blockage of autophagic flux in Pompe disease skeletal muscle, an energetic defect could be the key element explaining the SC inactivation. Thus, it would be highly informative to investigate the energetic state of SCs to determine how autophagic impairment could be involved in their activation defect. Recently, the dysregulation of the mammalian target of rapamycin mTOR signaling has been described in skeletal muscle in Pompe disease [ 35 ].
Our findings also provide evidence that SCs remain functional following acute injury, revealing a defect in the activation signal in Pompe disease. In addition, we identified fiber splitting, centronucleation and the loss of large fibers as typical histopathological signs that progress concomitantly with autophagic buildup as the disease progresses.
The metabolic status of SCs over the course of Pompe disease should be explored. J Inherit Metab Dis — J Neurol — Mol Neurobiol — J Neurol Sci — Mol Genet Metab — Neuromuscul Disord — Cell Death Dis — Science — Hum Mol Genet — Histochem Cell Biol — Acta Neuropathol Commun — Article Google Scholar.
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Jianhong Ou for their contributions to RNA-seq processing and data analysis. The content of the manuscript is solely the responsibility of the authors and does not necessarily represent the official views of the funding agencies.
Jason Wang, Chris J. Sang-Oh Han, Priya S. You can also search for this author in PubMed Google Scholar. Correspondence to Nenad Bursac. All other authors have no competing interests. Reprints and Permissions. Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease. Commun Biol 4, Download citation.
Received : 28 July Accepted : 31 March Published : 05 May Anyone you share the following link with will be able to read this content:. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Pompe disease. From Genetics Home Reference. Description Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells.
Frequency Pompe disease affects about 1 in 40, people in the United States. Learn more about the gene associated with Pompe disease GAA. Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
Research Studies from ClinicalTrials. Diagnosis of glycogenosis type II. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Acid alpha-glucosidase deficiency Pompe disease.
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