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Evaluation of the Storage Stability of Extracellular Vesicles
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Update on polyglucosan storage diseases.

Giovanna Cenacchi1, V Papa2, R Costa2

  • 1Department of Biomedical and Neuromotor Sciences, "Alma Mater" University of Bologna, Via Massarenti 9, 40138, Bologna, Italy. giovanna.cenacchi@unibo.it.

Virchows Archiv : an International Journal of Pathology
|August 1, 2019
PubMed
Summary
This summary is machine-generated.

Polyglucosan (PG) accumulation causes nine genetic disorders affecting the nervous system, heart, and muscles. Whole-genome sequencing aids in diagnosing these rare diseases.

Keywords:
Glycogen storageGlycogenin-1LaforaPolyglucosanPolyglucosan storage

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Abnormal glycogen structures, termed polyglucosan (PG), can accumulate in various tissues.
  • This accumulation underlies a spectrum of nine distinct genetic disorders affecting multiple organ systems.

Purpose of the Study:

  • To detail the clinical, pathological, and molecular characteristics of PG storage diseases.
  • To highlight the diagnostic utility of whole-genome sequencing in identifying these rare genetic conditions.

Main Methods:

  • Review of clinical case data.
  • Pathological examination of affected tissues.
  • Whole-genome sequencing for genetic diagnosis.

Main Results:

  • Polyglucosan aggregates are a consistent pathological hallmark across these disorders.
  • Genetic defects lead to diverse clinical phenotypes impacting the nervous system, heart, and skeletal muscle.
  • Whole-genome sequencing has successfully diagnosed previously unrecognized PG storage disorders.

Conclusions:

  • Polyglucosan storage diseases represent a group of related genetic disorders with significant clinical heterogeneity.
  • Understanding the molecular basis of these diseases is crucial for diagnosis and potential therapeutic strategies.