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 language | English |
|---|---|
| Journal | Molecular Neurobiology |
| DOIs | |
| Publication status | Accepted/In press - Jan 1 2019 |
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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 journal › Review article
}
TY - JOUR
T1 - Molecular Approaches for the Treatment of Pompe Disease
AU - Bellotti, Anita Sofia
AU - Andreoli, Luca
AU - Ronchi, Dario
AU - Bresolin, Nereo
AU - Comi, Giacomo P.
AU - Corti, Stefania
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - Alpha-glucosidase (GAA)
KW - Antisense oligonucleotides
KW - Gene therapy
KW - GSDII
KW - Molecular therapy
KW - Pompe disease
KW - Therapy
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UR - http://www.scopus.com/inward/citedby.url?scp=85075218182&partnerID=8YFLogxK
U2 - 10.1007/s12035-019-01820-5
DO - 10.1007/s12035-019-01820-5
M3 - Review article
C2 - 31713816
AN - SCOPUS:85075218182
JO - Molecular Neurobiology
JF - Molecular Neurobiology
SN - 0893-7648
ER -