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Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients

2024-03-21Research article Open access
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dc.contributor.authorCarvalho, Sofia
dc.contributor.authorSantos, Juliana Inês
dc.contributor.authorMoreira, Luciana
dc.contributor.authorDuarte, Ana Joana
dc.contributor.authorGaspar, Paulo
dc.contributor.authorRocha, Hugo
dc.contributor.authorEncarnação, Marisa
dc.contributor.authorRibeiro, Diogo
dc.contributor.authorBarbosa Almeida, Matilde
dc.contributor.authorGonçalves, Mariana
dc.contributor.authorDavid, Hugo
dc.contributor.authorMatos, Liliana
dc.contributor.authorAmaral, Olga
dc.contributor.authorDiogo, Luísa
dc.contributor.authorFerreira, Sara
dc.contributor.authorSantos, Constança
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorPrata, Maria João
dc.contributor.authorPereira de Almeida, Luís
dc.contributor.authorAlves, Sandra
dc.contributor.authorCoutinho, Maria Francisca
dc.date.accessioned2025-03-12T12:34:10Z
dc.date.available2025-03-12T12:34:10Z
dc.date.issued2024-03-21
dc.descriptionThis article belongs to the Special Issue The Lysosome in Human Health and Diseases.
dc.description.abstractAmong the many lysosomal storage disorders (LSDs) that would benefit from the establishment of novel cell models, either patient-derived or genetically engineered, is mucopolysaccharidosis type II (MPS II). Here, we present our results on the establishment and characterization of two MPS II patient-derived stem cell line(s) from deciduous baby teeth. To the best of our knowledge, this is the first time a stem cell population has been isolated from LSD patient samples obtained from the dental pulp. Taking into account our results on the molecular and biochemical characterization of those cells and the fact that they exhibit visible and measurable disease phenotypes, we consider these cells may qualify as a valuable disease model, which may be useful for both pathophysiological assessments and in vitro screenings. Ultimately, we believe that patient-derived dental pulp stem cells (DPSCs), particularly those isolated from human exfoliated deciduous teeth (SHEDs), may represent a feasible alternative to induced pluripotent stem cells (iPSCs) in many labs with standard cell culture conditions and limited (human and economic) resources.
dc.description.sponsorshipThis work was financed by national funds through FCT—Fundação para a Ciência e a Tecnologia, I.P., within the scope of the project EXPL/BTM-SAL/0659/2021 (http://doi.org/10.54499/EXPL/BTM-SAL/0659/2021). This work was also partially supported by Sanfilippo Children’s Foundation (2019DGH1656/SCF2019I&D) and the Portuguese Society for Metabolic Disorders, SPDM (Bolsa SPDM de apoio à investigação Dr. Aguinaldo Cabral 2018; 2019DGH1629/SPDM2018I&D). Some specific tasks also benefited from additional funds: LAMP1 staining was performed according to the method implemented under the scope of the ongoing FCT project EXPL/BTM-TEC/1477/2021 and using its associated reagents; similarly, the differentiation into the three-germ-layer protocol was performed using a kit acquired and implemented under the scope of another FCT project, previously conducted in the lab (PTDC/BIM-MEC/4762/2014).
dc.identifier.citationInt J Mol Sci. 2024 Mar 21;25(6):3546. doi: 10.3390/ijms25063546
dc.identifier.doi10.3390/ijms25063546
dc.identifier.issn1661-6596
dc.identifier.pmid38542525
dc.identifier.urihttp://hdl.handle.net/10400.18/10435
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relationNeurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
dc.relationRNA-Seq based methods to identify novel disease biomarkers in neurodegenerative metabolic diseases
dc.relationPTDC/BIM-MEC/4762/2014
dc.relation.hasversionhttps://www.mdpi.com/1422-0067/25/6/3546
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectLysosomal Storage Diseases
dc.subjectDental Pulp Stem Cells (DPSCs)
dc.subjectDisease Modeling
dc.subjectIn vitro Models
dc.subjectInduced Pluripotent Stem Cells (iPSCs)
dc.subjectMucopolysaccharidosis Type II
dc.subjectStem Cells From Human Exfoliated Deciduous Teeth (SHEDs)
dc.subjectDoenças Lisossomais de Sobrecarga
dc.subjectDoenças Genéticas
dc.subjectGenética Humana
dc.titleModeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patientseng
dc.typeresearch article
dspace.entity.typePublication
oaire.awardTitleNeurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
oaire.awardTitleRNA-Seq based methods to identify novel disease biomarkers in neurodegenerative metabolic diseases
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/EXPL%2FBTM-SAL%2F0659%2F2021/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/Concurso de Projetos de Investigação de Caráter Exploratório (PeX) em Todos os Domínios Científicos/EXPL%2FBTM-TEC%2F1477%2F2021/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT
oaire.citation.issue6
oaire.citation.startPage3546
oaire.citation.titleInternational Journal of Molecular Sciences
oaire.citation.volume25
oaire.fundingStream3599-PPCDT
oaire.fundingStreamConcurso de Projetos de Investigação de Caráter Exploratório (PeX) em Todos os Domínios Científicos
oaire.fundingStream3599-PPCDT
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
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
relation.isProjectOfPublication41df0cc8-c7fb-435b-83d5-9e2249fcc86d
relation.isProjectOfPublication88e7e17f-1ff1-4024-b104-311c6dead773
relation.isProjectOfPublication9452b84c-9691-47bb-82ba-75ed40cdfa04
relation.isProjectOfPublication.latestForDiscovery41df0cc8-c7fb-435b-83d5-9e2249fcc86d

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