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.
Molecular Approaches for the Treatment of Pompe Disease / A.S. Bellotti, L. Andreoli, D. Ronchi, N. Bresolin, G.P. Comi, S. Corti. - In: MOLECULAR NEUROBIOLOGY. - ISSN 0893-7648. - (2019). [Epub ahead of print] [10.1007/s12035-019-01820-5]
Molecular Approaches for the Treatment of Pompe Disease
D. Ronchi;N. Bresolin;G.P. ComiPenultimo
;S. Corti
Ultimo
2019
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.File | Dimensione | Formato | |
---|---|---|---|
Bellotti AIR1.pdf
Open Access dal 02/01/2021
Tipologia:
Post-print, accepted manuscript ecc. (versione accettata dall'editore)
Dimensione
621.66 kB
Formato
Adobe PDF
|
621.66 kB | Adobe PDF | Visualizza/Apri |
Bellotti2019_Article_MolecularApproachesForTheTreat.pdf
accesso riservato
Tipologia:
Publisher's version/PDF
Dimensione
792.9 kB
Formato
Adobe PDF
|
792.9 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.