Update on polyglucosan storage diseases

Giovanna Cenacchi, V. Papa, R. Costa, V. Pegoraro, R. Marozzo, M. Fanin, C. Angelini

Research output: Contribution to journalReview article

Abstract

An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of nine different genetic disorders manifesting with a variety of clinical phenotypes that affect mainly the nervous system (Lafora disease, adult PG body disease), the heart (glycogen storage disease type XV, hypertrophic cardiomyopathy type 6, PG body myopathy type 1) and the skeletal muscle (glycogen storage disease type IV, glycogen storage disease type VII, PG body myopathy type 2), depending on the organs which are mostly affected by the PG aggregates. The pathological feature of PG storage in tissues is a hallmark of these disorders. Whole-genome sequencing has allowed to obtain a diagnosis in a large number of patients with a previously unrecognized disorder. We describe the clinical, pathological and molecular features of these genetic disorders, for many of which the pathological mechanisms underlying the corresponding mutant gene have been investigated and, at least in part, understood.

Original languageEnglish
JournalVirchows Archiv
DOIs
Publication statusPublished - Jan 1 2019

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Somatotypes
Inborn Genetic Diseases
Muscular Diseases
Glycogen Storage Disease Type VII
Glycogen Storage Disease Type IV
Lafora Disease
Amylopectin
Striated Muscle
Hypertrophic Cardiomyopathy
Nervous System Diseases
Glycogen
Polysaccharides
Smooth Muscle
Molecular Biology
Skeletal Muscle
polyglucosan
Genome
Phenotype
Skin
Liver

Keywords

  • Glycogen storage
  • Glycogenin-1
  • Lafora
  • Polyglucosan
  • Polyglucosan storage

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

Cite this

Cenacchi, G., Papa, V., Costa, R., Pegoraro, V., Marozzo, R., Fanin, M., & Angelini, C. (2019). Update on polyglucosan storage diseases. Virchows Archiv. https://doi.org/10.1007/s00428-019-02633-6

Update on polyglucosan storage diseases. / Cenacchi, Giovanna; Papa, V.; Costa, R.; Pegoraro, V.; Marozzo, R.; Fanin, M.; Angelini, C.

In: Virchows Archiv, 01.01.2019.

Research output: Contribution to journalReview article

Cenacchi, G, Papa, V, Costa, R, Pegoraro, V, Marozzo, R, Fanin, M & Angelini, C 2019, 'Update on polyglucosan storage diseases', Virchows Archiv. https://doi.org/10.1007/s00428-019-02633-6
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M et al. Update on polyglucosan storage diseases. Virchows Archiv. 2019 Jan 1. https://doi.org/10.1007/s00428-019-02633-6
Cenacchi, Giovanna ; Papa, V. ; Costa, R. ; Pegoraro, V. ; Marozzo, R. ; Fanin, M. ; Angelini, C. / Update on polyglucosan storage diseases. In: Virchows Archiv. 2019.
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