Utilize este identificador para referenciar este registo:
http://hdl.handle.net/10400.18/9124
Título: | Leukocyte Imbalances in Mucopolysaccharidoses Patients |
Autor: | Lopes, Nuno Maia, Maria L. Pereira, Cátia S. Mondragão-Rodrigues, Inês Martins, Esmeralda Ribeiro, Rosa Gaspar, Ana Aguiar, Patrício Garcia, Paula Cardoso, Maria Teresa Rodrigues, Esmeralda Leão-Teles, Elisa Giugliani, Roberto Coutinho, Maria F. Alves, Sandra Macedo, M. Fátima |
Palavras-chave: | T Cells Glycosaminoglycans Invariant Natural Killer T (iNKT) Cells Leukocytes Lysosomal Storage Diseases Mucopolysaccharidoses Genética Humana Doenças Genéticas |
Data: | 13-Jun-2023 |
Editora: | MDPI |
Citação: | Biomedicines. 2023 Jun 13;11(6):1699. doi: 10.3390/biomedicines11061699 |
Resumo: | 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 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. |
Descrição: | (This article belongs to the Special Issue Inherited Metabolic Disorders: From Bench to Bedside) |
Peer review: | yes |
URI: | http://hdl.handle.net/10400.18/9124 |
DOI: | 10.3390/biomedicines11061699 |
ISSN: | 2227-9059 |
Versão do Editor: | https://www.mdpi.com/2227-9059/11/6/1699 |
Aparece nas colecções: | DGH - Artigos em revistas internacionais |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
---|---|---|---|---|
biomedicines-11-01699fm.pdf | 2,02 MB | Adobe PDF | Ver/Abrir |
Todos os registos no repositório estão protegidos por leis de copyright, com todos os direitos reservados.