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Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses

1
Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá D.C. 110231, Colombia
2
Chemistry Department, Faculty of Science, Pontificia Universidad Javeriana, Bogotá D.C. 110231, Colombia
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(1), 232; https://doi.org/10.3390/ijms21010232
Received: 30 October 2019 / Revised: 21 November 2019 / Accepted: 25 November 2019 / Published: 29 December 2019
(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management)
The mucopolysaccharidoses (MPS) are a group of 11 lysosomal storage diseases (LSDs) produced by mutations in the enzymes involved in the lysosomal catabolism of glycosaminoglycans. Most of the mutations affecting these enzymes may lead to changes in processing, folding, glycosylation, pH stability, protein aggregation, and defective transport to the lysosomes. It this sense, it has been proposed that the use of small molecules, called pharmacological chaperones (PCs), can restore the folding, trafficking, and biological activity of mutated enzymes. PCs have the advantages of wide tissue distribution, potential oral administration, lower production cost, and fewer issues of immunogenicity than enzyme replacement therapy. In this paper, we will review the advances in the identification and characterization of PCs for the MPS. These molecules have been described for MPS II, IVA, and IVB, showing a mutation-dependent enhancement of the mutated enzymes. Although the results show the potential of this strategy, further studies should focus in the development of disease-specific cellular models that allow a proper screening and evaluation of PCs. In addition, in vivo evaluation, both pre-clinical and clinical, should be performed, before they can become a real therapeutic strategy for the treatment of MPS patients. View Full-Text
Keywords: pharmacological chaperones; lysosomal storage diseases; mucopolysaccharidoses; small molecules pharmacological chaperones; lysosomal storage diseases; mucopolysaccharidoses; small molecules
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MDPI and ACS Style

Losada Díaz, J.C.; Cepeda del Castillo, J.; Rodriguez-López, E.A.; Alméciga-Díaz, C.J. Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses. Int. J. Mol. Sci. 2020, 21, 232. https://doi.org/10.3390/ijms21010232

AMA Style

Losada Díaz JC, Cepeda del Castillo J, Rodriguez-López EA, Alméciga-Díaz CJ. Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses. International Journal of Molecular Sciences. 2020; 21(1):232. https://doi.org/10.3390/ijms21010232

Chicago/Turabian Style

Losada Díaz, Juan C.; Cepeda del Castillo, Jacobo; Rodriguez-López, Edwin A.; Alméciga-Díaz, Carlos J. 2020. "Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses" Int. J. Mol. Sci. 21, no. 1: 232. https://doi.org/10.3390/ijms21010232

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