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Review

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies

1
Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá 110231, Colombia
2
Faculty of Medicine, Universidad Nacional de Colombia, Bogotá 110231, Colombia
*
Authors to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(17), 6213; https://doi.org/10.3390/ijms21176213
Received: 6 July 2020 / Revised: 3 August 2020 / Accepted: 7 August 2020 / Published: 27 August 2020
(This article belongs to the Special Issue Genetic and Metabolic Molecular Research of Lysosomal Storage Disease)
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes encoding for the β-hexosaminidases subunits or the GM2 activator protein. Three GM2 gangliosidoses have been described: Tay–Sachs disease, Sandhoff disease, and the AB variant. Central nervous system dysfunction is the main characteristic of GM2 gangliosidoses patients that include neurodevelopment alterations, neuroinflammation, and neuronal apoptosis. Currently, there is not approved therapy for GM2 gangliosidoses, but different therapeutic strategies have been studied including hematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction therapy, pharmacological chaperones, and gene therapy. The blood–brain barrier represents a challenge for the development of therapeutic agents for these disorders. In this sense, alternative routes of administration (e.g., intrathecal or intracerebroventricular) have been evaluated, as well as the design of fusion peptides that allow the protein transport from the brain capillaries to the central nervous system. In this review, we outline the current knowledge about clinical and physiopathological findings of GM2 gangliosidoses, as well as the ongoing proposals to overcome some limitations of the traditional alternatives by using novel strategies such as molecular Trojan horses or advanced tools of genome editing. View Full-Text
Keywords: lysosomal storage disorders; GM2 gangliosidoses; Tay–Sachs disease; Sandhoff disease; β-Hexosaminidases; therapeutic alternatives lysosomal storage disorders; GM2 gangliosidoses; Tay–Sachs disease; Sandhoff disease; β-Hexosaminidases; therapeutic alternatives
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MDPI and ACS Style

Leal, A.F.; Benincore-Flórez, E.; Solano-Galarza, D.; Garzón Jaramillo, R.G.; Echeverri-Peña, O.Y.; Suarez, D.A.; Alméciga-Díaz, C.J.; Espejo-Mojica, A.J. GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies. Int. J. Mol. Sci. 2020, 21, 6213. https://doi.org/10.3390/ijms21176213

AMA Style

Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ. GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies. International Journal of Molecular Sciences. 2020; 21(17):6213. https://doi.org/10.3390/ijms21176213

Chicago/Turabian Style

Leal, Andrés F., Eliana Benincore-Flórez, Daniela Solano-Galarza, Rafael G. Garzón Jaramillo, Olga Y. Echeverri-Peña, Diego A. Suarez, Carlos J. Alméciga-Díaz, and Angela J. Espejo-Mojica 2020. "GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies" International Journal of Molecular Sciences 21, no. 17: 6213. https://doi.org/10.3390/ijms21176213

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