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Radiochemical Assessment of Glycogen Synthase Enzyme Activity in Animal Tissue
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Polyglucosan storage myopathies.

Carola Hedberg-Oldfors1, Anders Oldfors1

  • 1Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

Molecular Aspects of Medicine
|August 18, 2015
PubMed
Summary
This summary is machine-generated.

Polyglucosan storage diseases result from defective glycogen metabolism, causing muscle weakness and heart problems. This review details their clinical, morphological, and genetic aspects.

Keywords:
CardiomyopathyGlycogenMetabolismMuscle diseaseMuscle glycogen storage disordersPolyglucosanPolysaccharide storage

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Area of Science:

  • Biochemistry
  • Genetics
  • Pathology

Background:

  • Polyglucosan is an amylopectin-like polysaccharide resistant to α-amylase digestion.
  • It aggregates into polyglucosan bodies, accumulating in tissues during aging and disease.
  • Abnormal polyglucosan accumulation is linked to glycogen metabolism defects.

Purpose of the Study:

  • To review polyglucosan storage diseases (PSDs).
  • To summarize PSDs from clinical, morphological, and genetic perspectives.
  • To identify similarities and differences in polyglucosan accumulation and discuss pathogenesis.

Main Methods:

  • Literature review of polyglucosan storage diseases.
  • Analysis of clinical manifestations, morphological features, and genetic mutations.
  • Discussion of pathogenic mechanisms and pathways.

Main Results:

  • PSDs affect skeletal and cardiac muscle, causing myopathy and cardiomyopathy.
  • Mutations in eight human genes (e.g., GBE1, PRKAG2) and one equine gene (GYS1) are associated with PSDs.
  • Pathogenic mechanisms are largely unknown in most cases.

Conclusions:

  • PSDs are a group of disorders characterized by abnormal glycogen metabolism.
  • Understanding the clinical, morphological, and genetic features is crucial for diagnosis and research.
  • Further research is needed to elucidate the pathogenic pathways of PSDs.