Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2023 |
| Outros Autores: | , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10400.18/9125 |
Resumo: | (This article belongs to the Special Issue Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies 2.0) |
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Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating MucopolysaccharidosesMucopolysaccharidosesDisease ModelingIn Vvitro ModelsInduced Pluripotent Stem Cells (iPSCs)Dental Pulp Stem Cells (DPSCs)Genética HumanaDoenças Genéticas(This article belongs to the Special Issue Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies 2.0)ReviewDespite 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.Funding: 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.MDPIRepositório Científico do Instituto Nacional de SaúdeCarvalho, SofiaSantos, Juliana InêsMoreira, LucianaGonçalves, MarianaDavid, HugoMatos, LilianaEncarnação, MarisaAlves, SandraCoutinho, Maria Francisca2024-02-19T16:07:16Z2023-04-212023-04-21T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/9125engBiomedicines. 2023 Apr 21;11(4):1234. doi: 10.3390/biomedicines11041234. Review2227-905910.3390/biomedicines11041234info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-02-24T01:30:55Zoai:repositorio.insa.pt:10400.18/9125Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:11:15.601372Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses |
| title |
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses |
| spellingShingle |
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses Carvalho, Sofia Mucopolysaccharidoses Disease Modeling In Vvitro Models Induced Pluripotent Stem Cells (iPSCs) Dental Pulp Stem Cells (DPSCs) Genética Humana Doenças Genéticas |
| title_short |
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses |
| title_full |
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses |
| title_fullStr |
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses |
| title_full_unstemmed |
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses |
| title_sort |
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses |
| author |
Carvalho, Sofia |
| author_facet |
Carvalho, Sofia Santos, Juliana Inês Moreira, Luciana Gonçalves, Mariana David, Hugo Matos, Liliana Encarnação, Marisa Alves, Sandra Coutinho, Maria Francisca |
| author_role |
author |
| author2 |
Santos, Juliana Inês Moreira, Luciana Gonçalves, Mariana David, Hugo Matos, Liliana Encarnação, Marisa Alves, Sandra Coutinho, Maria Francisca |
| author2_role |
author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
| dc.contributor.author.fl_str_mv |
Carvalho, Sofia Santos, Juliana Inês Moreira, Luciana Gonçalves, Mariana David, Hugo Matos, Liliana Encarnação, Marisa Alves, Sandra Coutinho, Maria Francisca |
| dc.subject.por.fl_str_mv |
Mucopolysaccharidoses Disease Modeling In Vvitro Models Induced Pluripotent Stem Cells (iPSCs) Dental Pulp Stem Cells (DPSCs) Genética Humana Doenças Genéticas |
| topic |
Mucopolysaccharidoses Disease Modeling In Vvitro Models Induced Pluripotent Stem Cells (iPSCs) Dental Pulp Stem Cells (DPSCs) Genética Humana Doenças Genéticas |
| description |
(This article belongs to the Special Issue Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies 2.0) |
| publishDate |
2023 |
| dc.date.none.fl_str_mv |
2023-04-21 2023-04-21T00:00:00Z 2024-02-19T16:07:16Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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http://hdl.handle.net/10400.18/9125 |
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http://hdl.handle.net/10400.18/9125 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
Biomedicines. 2023 Apr 21;11(4):1234. doi: 10.3390/biomedicines11041234. Review 2227-9059 10.3390/biomedicines11041234 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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MDPI |
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MDPI |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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