Leukocyte Imbalances in Mucopolysaccharidoses Patients
Mucopolysaccharidoses (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 <i>IDS</i> gene, leading to deficient activity of...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Language: | English |
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MDPI AG
2023-06-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/11/6/1699 |
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| author | Nuno Lopes Maria L. Maia Cátia S. Pereira Inês Mondragão-Rodrigues Esmeralda Martins Rosa Ribeiro Ana Gaspar Patrício Aguiar Paula Garcia Maria Teresa Cardoso Esmeralda Rodrigues Elisa Leão-Teles Roberto Giugliani Maria F. Coutinho Sandra Alves M. Fátima Macedo |
| author_facet | Nuno Lopes Maria L. Maia Cátia S. Pereira Inês Mondragão-Rodrigues Esmeralda Martins Rosa Ribeiro Ana Gaspar Patrício Aguiar Paula Garcia Maria Teresa Cardoso Esmeralda Rodrigues Elisa Leão-Teles Roberto Giugliani Maria F. Coutinho Sandra Alves M. Fátima Macedo |
| author_sort | Nuno Lopes |
| collection | DOAJ |
| description | Mucopolysaccharidoses (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 <i>IDS</i> 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 <i>ARSB</i> 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. |
| first_indexed | 2024-03-11T02:43:59Z |
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| id | doaj.art-9e4cc5daa22a4ece9b66e7cefb167977 |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-11T02:43:59Z |
| publishDate | 2023-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-9e4cc5daa22a4ece9b66e7cefb1679772023-11-18T09:26:56ZengMDPI AGBiomedicines2227-90592023-06-01116169910.3390/biomedicines11061699Leukocyte Imbalances in Mucopolysaccharidoses PatientsNuno Lopes0Maria L. Maia1Cátia S. Pereira2Inês Mondragão-Rodrigues3Esmeralda Martins4Rosa Ribeiro5Ana Gaspar6Patrício Aguiar7Paula Garcia8Maria Teresa Cardoso9Esmeralda Rodrigues10Elisa Leão-Teles11Roberto Giugliani12Maria F. Coutinho13Sandra Alves14M. Fátima Macedo15Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, PortugalInstituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, PortugalInstituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, PortugalInstituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, PortugalCentro de Referência de Doenças Hereditárias do Metabolismo (DHM), Centro Hospitalar Universitário de Santo António, 4099-001 Porto, PortugalCentro de Referência de Doenças Hereditárias do Metabolismo (DHM), Centro Hospitalar Universitário de Santo António, 4099-001 Porto, PortugalCentro de Referência de Doenças Hereditárias do Metabolismo (DHM), Centro Hospitalar e Universitário Lisboa Norte (CHULN), 1649-035 Lisbon, PortugalCentro de Referência de Doenças Hereditárias do Metabolismo (DHM), Centro Hospitalar e Universitário Lisboa Norte (CHULN), 1649-035 Lisbon, PortugalCentro de Referência de Doenças Hereditárias do Metabolismo (DHM), Centro Hospitalar e Universitário de Coimbra, Centro de Desenvolvimento da Criança, 3000-075 Coimbra, PortugalCentro de Referência de Doenças Hereditárias do Metabolismo (DHM), Centro Hospitalar Universitário de São João (CHUSJ), 4200-319 Porto, PortugalCentro de Referência de Doenças Hereditárias do Metabolismo (DHM), Centro Hospitalar Universitário de São João (CHUSJ), 4200-319 Porto, PortugalCentro de Referência de Doenças Hereditárias do Metabolismo (DHM), Centro Hospitalar Universitário de São João (CHUSJ), 4200-319 Porto, PortugalHospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, DASA e Casa dos Raros, Porto Alegre 90610-150, BrazilResearch and Development Unit, Department of Genetics, INSA, 4000-055 Porto, PortugalResearch and Development Unit, Department of Genetics, INSA, 4000-055 Porto, PortugalInstituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, PortugalMucopolysaccharidoses (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 <i>IDS</i> 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 <i>ARSB</i> 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.https://www.mdpi.com/2227-9059/11/6/1699lysosomal storage diseasesmucopolysaccharidosesglycosaminoglycansleukocytesT cellsinvariant natural killer T (iNKT) cells |
| spellingShingle | Nuno Lopes Maria L. Maia Cátia S. Pereira Inês Mondragão-Rodrigues Esmeralda Martins Rosa Ribeiro Ana Gaspar Patrício Aguiar Paula Garcia Maria Teresa Cardoso Esmeralda Rodrigues Elisa Leão-Teles Roberto Giugliani Maria F. Coutinho Sandra Alves M. Fátima Macedo Leukocyte Imbalances in Mucopolysaccharidoses Patients Biomedicines lysosomal storage diseases mucopolysaccharidoses glycosaminoglycans leukocytes T cells invariant natural killer T (iNKT) cells |
| title | Leukocyte Imbalances in Mucopolysaccharidoses Patients |
| title_full | Leukocyte Imbalances in Mucopolysaccharidoses Patients |
| title_fullStr | Leukocyte Imbalances in Mucopolysaccharidoses Patients |
| title_full_unstemmed | Leukocyte Imbalances in Mucopolysaccharidoses Patients |
| title_short | Leukocyte Imbalances in Mucopolysaccharidoses Patients |
| title_sort | leukocyte imbalances in mucopolysaccharidoses patients |
| topic | lysosomal storage diseases mucopolysaccharidoses glycosaminoglycans leukocytes T cells invariant natural killer T (iNKT) cells |
| url | https://www.mdpi.com/2227-9059/11/6/1699 |
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