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Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses

2023-04-21Journal article Open access
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dc.contributor.authorCarvalho, Sofia
dc.contributor.authorSantos, Juliana Inês
dc.contributor.authorMoreira, Luciana
dc.contributor.authorGonçalves, Mariana
dc.contributor.authorDavid, Hugo
dc.contributor.authorMatos, Liliana
dc.contributor.authorEncarnação, Marisa
dc.contributor.authorAlves, Sandra
dc.contributor.authorCoutinho, Maria Francisca
dc.date.accessioned2024-02-19T16:07:16Z
dc.date.available2024-02-19T16:07:16Z
dc.date.issued2023-04-21
dc.description(This article belongs to the Special Issue Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies 2.0)pt_PT
dc.descriptionReview
dc.description.abstractDespite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularly true for the neuropathology of these disorders; the neurological symptoms are currently incurable, even in the cases where a disease-specific therapeutic approach does exist. One of the best ways to get insights on the molecular mechanisms driving that pathogenesis is the analysis of patient-derived cells. Yet, not every patient-derived cell recapitulates relevant disease features. For the neuronopathic forms of MPSs, for example, this is particularly evident because of the obvious inability to access live neurons. This scenario changed significantly with the advent of induced pluripotent stem cell (iPSC) technologies. From then on, a series of differentiation protocols to generate neurons from iPSC was developed and extensively used for disease modeling. Currently, human iPSC and iPSC-derived cell models have been generated for several MPSs and numerous lessons were learnt from their analysis. Here we review most of those studies, not only listing the currently available MPS iPSC lines and their derived models, but also summarizing how they were generated and the major information different groups have gathered from their analyses. Finally, and taking into account that iPSC generation is a laborious/expensive protocol that holds significant limitations, we also hypothesize on a tempting alternative to establish MPS patient-derived neuronal cells in a much more expedite way, by taking advantage of the existence of a population of multipotent stem cells in human dental pulp to establish mixed neuronal and glial cultures.pt_PT
dc.description.sponsorshipFunding: This work was partially supported by the Portuguese Society for Metabolic Disorders, SPDM (Bolsa SPDM de apoio à investigação Dr. Aguinaldo Cabral 2018; 2019DGH1629/SPDM2018I&D), Sanfilippo Children’s Foundation (2019DGH1656/SCF2019I&D), and Fundação para a Ciência e a Tecnologia, FCT: EXPL/BTM-SAL/0659/2021; UIDB/00211/2020—Centro de Estudos de Ciência Animal/Center for the Study of Animal Science; LA/P/0059/2020—Laboratório Associado para Ciência Animal e Veterinária/Associate Laboratory for Animal and Veterinary Sciences.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBiomedicines. 2023 Apr 21;11(4):1234. doi: 10.3390/biomedicines11041234. Reviewpt_PT
dc.identifier.doi10.3390/biomedicines11041234pt_PT
dc.identifier.issn2227-9059
dc.identifier.urihttp://hdl.handle.net/10400.18/9125
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationNeurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
dc.relationCenter for the Study of Animal Science
dc.relationAssociate Laboratory for Animal and Veterinary Sciences
dc.relation.publisherversionhttps://www.mdpi.com/2227-9059/11/4/1234pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectMucopolysaccharidosespt_PT
dc.subjectDisease Modelingpt_PT
dc.subjectIn Vvitro Modelspt_PT
dc.subjectInduced Pluripotent Stem Cells (iPSCs)pt_PT
dc.subjectDental Pulp Stem Cells (DPSCs)pt_PT
dc.subjectGenética Humanapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleNeurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidosespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleNeurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
oaire.awardTitleCenter for the Study of Animal Science
oaire.awardTitleAssociate Laboratory for Animal and Veterinary Sciences
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/EXPL%2FBTM-SAL%2F0659%2F2021/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00211%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/LA%2FP%2F0059%2F2020/PT
oaire.citation.issue4pt_PT
oaire.citation.startPage1234pt_PT
oaire.citation.titleBiomedicinespt_PT
oaire.citation.volume11pt_PT
oaire.fundingStream3599-PPCDT
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream6817 - DCRRNI ID
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublication41df0cc8-c7fb-435b-83d5-9e2249fcc86d
relation.isProjectOfPublication69b75eb9-6f25-4ad8-98db-6cc7e9bcdcc7
relation.isProjectOfPublication93de5af7-dedc-4696-ae11-592584b020a8
relation.isProjectOfPublication.latestForDiscovery41df0cc8-c7fb-435b-83d5-9e2249fcc86d

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