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Leukocyte Imbalances in Mucopolysaccharidoses Patients

2023-06-13Journal article Open access
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dc.contributor.authorLopes, Nuno
dc.contributor.authorMaia, Maria L.
dc.contributor.authorPereira, Cátia S.
dc.contributor.authorMondragão-Rodrigues, Inês
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorRibeiro, Rosa
dc.contributor.authorGaspar, Ana
dc.contributor.authorAguiar, Patrício
dc.contributor.authorGarcia, Paula
dc.contributor.authorCardoso, Maria Teresa
dc.contributor.authorRodrigues, Esmeralda
dc.contributor.authorLeão-Teles, Elisa
dc.contributor.authorGiugliani, Roberto
dc.contributor.authorCoutinho, Maria F.
dc.contributor.authorAlves, Sandra
dc.contributor.authorMacedo, M. Fátima
dc.date.accessioned2024-02-19T15:56:40Z
dc.date.available2024-02-19T15:56:40Z
dc.date.issued2023-06-13
dc.description(This article belongs to the Special Issue Inherited Metabolic Disorders: From Bench to Bedside)pt_PT
dc.description.abstractMucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic mutations in the IDS gene, leading to deficient activity of the enzyme iduronate-2-sulfatase, which causes dermatan and heparan sulfate storage in the lysosomes. In MPS VI, there is dermatan sulfate lysosomal accumulation due to pathogenic mutations in the ARSB gene, leading to arylsulfatase B deficiency. Alterations in the immune system of MPS mouse models have already been described, but data concerning MPSs patients is still scarce. Herein, we study different leukocyte populations in MPS II and VI disease patients. MPS VI, but not MPS II patients, have a decrease percentage of natural killer (NK) cells and monocytes when compared with controls. No alterations were identified in the percentage of T, invariant NKT, and B cells in both groups of MPS disease patients. However, we discovered alterations in the naïve versus memory status of both helper and cytotoxic T cells in MPS VI disease patients compared to control group. Indeed, MPS VI disease patients have a higher frequency of naïve T cells and, consequently, lower memory T cell frequency than control subjects. Altogether, these results reveal MPS VI disease-specific alterations in some leukocyte populations, suggesting that the type of substrate accumulated and/or enzyme deficiency in the lysosome may have a particular effect on the normal cellular composition of the immune system.pt_PT
dc.description.sponsorshipThis work was funded by National Funds through FCT—Fundação para a Ciência e a Tecnologia, I.P., under the project UIDB/04293/2020.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBiomedicines. 2023 Jun 13;11(6):1699. doi: 10.3390/biomedicines11061699pt_PT
dc.identifier.doi10.3390/biomedicines11061699pt_PT
dc.identifier.issn2227-9059
dc.identifier.urihttp://hdl.handle.net/10400.18/9124
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationInstitute for Research and Innovation in Health
dc.relation.publisherversionhttps://www.mdpi.com/2227-9059/11/6/1699pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectT Cellspt_PT
dc.subjectGlycosaminoglycanspt_PT
dc.subjectInvariant Natural Killer T (iNKT) Cellspt_PT
dc.subjectLeukocytespt_PT
dc.subjectLysosomal Storage Diseasespt_PT
dc.subjectMucopolysaccharidosespt_PT
dc.subjectGenética Humanapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleLeukocyte Imbalances in Mucopolysaccharidoses Patientspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleInstitute for Research and Innovation in Health
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F04293%2F2020/PT
oaire.citation.issue6pt_PT
oaire.citation.startPage1699pt_PT
oaire.citation.titleBiomedicinespt_PT
oaire.citation.volume11pt_PT
oaire.fundingStream6817 - DCRRNI ID
project.funder.identifierhttp://doi.org/10.13039/501100001871
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.isProjectOfPublicationc4d18dc8-6dd3-40e2-9283-d71f92b31863
relation.isProjectOfPublication.latestForDiscoveryc4d18dc8-6dd3-40e2-9283-d71f92b31863

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