Molecular Approaches for the Treatment of Pompe Disease

Anita Sofia Bellotti, Luca Andreoli, Dario Ronchi, Nereo Bresolin, Giacomo P. Comi, Stefania Corti

Research output: Contribution to journalReview article

Abstract

Glycogen storage disease type II (GSDII, Pompe disease) is a rare metabolic disorder caused by a deficiency of acid alpha-glucosidase (GAA), an enzyme localized within lysosomes that is solely responsible for glycogen degradation in this compartment. The manifestations of GSDII are heterogeneous but are classified as early or late onset. The natural course of early-onset Pompe disease (EOPD) is severe and rapidly fatal if left untreated. Currently, one therapeutic approach, namely, enzyme replacement therapy, is available, but advances in molecular medicine approaches hold promise for even more effective therapeutic strategies. These approaches, which we review here, comprise splicing modification by antisense oligonucleotides, chaperone therapy, stop codon readthrough therapy, and the use of viral vectors to introduce wild-type genes. Considering the high rate at which innovations are translated from bench to bedside, it is reasonable to expect substantial improvements in the treatment of this illness in the foreseeable future.

Original languageEnglish
JournalMolecular Neurobiology
DOIs
Publication statusAccepted/In press - Jan 1 2019

Fingerprint

Glycogen Storage Disease Type II
Molecular Medicine
Enzyme Replacement Therapy
Therapeutics
Terminator Codon
Antisense Oligonucleotides
Lysosomes
Glycogen
Enzymes
Genes

Keywords

  • Alpha-glucosidase (GAA)
  • Antisense oligonucleotides
  • Gene therapy
  • GSDII
  • Molecular therapy
  • Pompe disease
  • Therapy

ASJC Scopus subject areas

  • Neurology
  • Cellular and Molecular Neuroscience

Cite this

Molecular Approaches for the Treatment of Pompe Disease. / Bellotti, Anita Sofia; Andreoli, Luca; Ronchi, Dario; Bresolin, Nereo; Comi, Giacomo P.; Corti, Stefania.

In: Molecular Neurobiology, 01.01.2019.

Research output: Contribution to journalReview article

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