Platelet Membrane Glycoprofiling in a PMM2-CDG Patien
- Autores
- Papazoglu, Gabriela Magali; Silveira Ruiz, Silene Maité; Salina, Roberta; Pereira, Beatriz María Inés; Cubilla, Marisa Angelica; Pesaola, Favio Nicolas; Ghione, Silvia; Ramadán, Silvana Sandra Ana; Martinez Duncker, Iván; Asteggiano, Carla Gabriela
- Año de publicación
- 2021
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as well as in lipid biosynthesis and glycosylphosphatidylinositol anchors. PMM2-CDG is caused by mutations in the phosphomannomutase-2 (PMM2) gene and shows autosomal recessive inheritance. It affects all organs and tissues, ranging from severe psychomotor retardation to moderate intellectual disability. Alterations in the primary haemostatic system have been reported in these patients and they can lead to severe bleeding or excessive thrombosis with subsequent vascular insufficiency. Despite of being the most common CDG, platelet glycosylation and sialylation defects in PMM2-CDG patients remain incompletely characterized. In this study, we applied a lectin-based flow cytometry approach to report the first characterization of the highly glycosylated platelet membrane glycan profile in a PMM2-CDG patient. In the PMM2-CDG patient?s platelet samples, a decreased binding of SNA lectin, indicative of reduced terminal α-2-6 sialic acid content, and an increased binding of PNA lectin, suggesting desialylation of β-1-Nacetylgalactosamine residues, were observed. Reduced expression of terminal sialic acids in platelet membrane glycoproteins may contribute to the increased risk of hemorrhage reported in these patients by promoting platelet clearance and thrombocytopenia
Fil: Papazoglu, Gabriela Magali. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina
Fil: Silveira Ruiz, Silene Maité. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; Argentina
Fil: Salina, Roberta. Universidad Autónoma del Estado de Morelos.; México
Fil: Pereira, Beatriz María Inés. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; Argentina
Fil: Cubilla, Marisa Angelica. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina
Fil: Pesaola, Favio Nicolas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina
Fil: Ghione, Silvia. Argenlab San Francisco; Argentina
Fil: Ramadán, Silvana Sandra Ana. Fundación Para El Progreso de la Medicina; Argentina
Fil: Martinez Duncker, Iván. Universidad Autónoma del Estado de Morelos.; México
Fil: Asteggiano, Carla Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina - Materia
-
Mass spectrometry
Platelet membrane
Glycoprofile
PMM2-CDG
Congenital disorders of glycosylation - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/164028
Ver los metadatos del registro completo
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Platelet Membrane Glycoprofiling in a PMM2-CDG PatienPapazoglu, Gabriela MagaliSilveira Ruiz, Silene MaitéSalina, RobertaPereira, Beatriz María InésCubilla, Marisa AngelicaPesaola, Favio NicolasGhione, SilviaRamadán, Silvana Sandra AnaMartinez Duncker, IvánAsteggiano, Carla GabrielaMass spectrometryPlatelet membraneGlycoprofilePMM2-CDGCongenital disorders of glycosylationhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as well as in lipid biosynthesis and glycosylphosphatidylinositol anchors. PMM2-CDG is caused by mutations in the phosphomannomutase-2 (PMM2) gene and shows autosomal recessive inheritance. It affects all organs and tissues, ranging from severe psychomotor retardation to moderate intellectual disability. Alterations in the primary haemostatic system have been reported in these patients and they can lead to severe bleeding or excessive thrombosis with subsequent vascular insufficiency. Despite of being the most common CDG, platelet glycosylation and sialylation defects in PMM2-CDG patients remain incompletely characterized. In this study, we applied a lectin-based flow cytometry approach to report the first characterization of the highly glycosylated platelet membrane glycan profile in a PMM2-CDG patient. In the PMM2-CDG patient?s platelet samples, a decreased binding of SNA lectin, indicative of reduced terminal α-2-6 sialic acid content, and an increased binding of PNA lectin, suggesting desialylation of β-1-Nacetylgalactosamine residues, were observed. Reduced expression of terminal sialic acids in platelet membrane glycoproteins may contribute to the increased risk of hemorrhage reported in these patients by promoting platelet clearance and thrombocytopeniaFil: Papazoglu, Gabriela Magali. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; ArgentinaFil: Silveira Ruiz, Silene Maité. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; ArgentinaFil: Salina, Roberta. Universidad Autónoma del Estado de Morelos.; MéxicoFil: Pereira, Beatriz María Inés. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; ArgentinaFil: Cubilla, Marisa Angelica. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; ArgentinaFil: Pesaola, Favio Nicolas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; ArgentinaFil: Ghione, Silvia. Argenlab San Francisco; ArgentinaFil: Ramadán, Silvana Sandra Ana. Fundación Para El Progreso de la Medicina; ArgentinaFil: Martinez Duncker, Iván. Universidad Autónoma del Estado de Morelos.; MéxicoFil: Asteggiano, Carla Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; ArgentinaLatin American Society Inborn Errors and Neonatal Screening. Instituto Genética para Todos2021-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/164028Papazoglu, Gabriela Magali; Silveira Ruiz, Silene Maité; Salina, Roberta; Pereira, Beatriz María Inés; Cubilla, Marisa Angelica; et al.; Platelet Membrane Glycoprofiling in a PMM2-CDG Patien; Latin American Society Inborn Errors and Neonatal Screening. Instituto Genética para Todos; Journal of Inborn Errors of Metabolismo and Screening; 9; e20200030; 7-2021; 1-112326-4594CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.scielo.br/j/jiems/a/Wwp5rLqqSLrB3GkB39qMHjB/info:eu-repo/semantics/altIdentifier/doi/10.1590/2326-4594-JIEMS-2020-0030info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:07:27Zoai:ri.conicet.gov.ar:11336/164028instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:07:27.356CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Platelet Membrane Glycoprofiling in a PMM2-CDG Patien |
title |
Platelet Membrane Glycoprofiling in a PMM2-CDG Patien |
spellingShingle |
Platelet Membrane Glycoprofiling in a PMM2-CDG Patien Papazoglu, Gabriela Magali Mass spectrometry Platelet membrane Glycoprofile PMM2-CDG Congenital disorders of glycosylation |
title_short |
Platelet Membrane Glycoprofiling in a PMM2-CDG Patien |
title_full |
Platelet Membrane Glycoprofiling in a PMM2-CDG Patien |
title_fullStr |
Platelet Membrane Glycoprofiling in a PMM2-CDG Patien |
title_full_unstemmed |
Platelet Membrane Glycoprofiling in a PMM2-CDG Patien |
title_sort |
Platelet Membrane Glycoprofiling in a PMM2-CDG Patien |
dc.creator.none.fl_str_mv |
Papazoglu, Gabriela Magali Silveira Ruiz, Silene Maité Salina, Roberta Pereira, Beatriz María Inés Cubilla, Marisa Angelica Pesaola, Favio Nicolas Ghione, Silvia Ramadán, Silvana Sandra Ana Martinez Duncker, Iván Asteggiano, Carla Gabriela |
author |
Papazoglu, Gabriela Magali |
author_facet |
Papazoglu, Gabriela Magali Silveira Ruiz, Silene Maité Salina, Roberta Pereira, Beatriz María Inés Cubilla, Marisa Angelica Pesaola, Favio Nicolas Ghione, Silvia Ramadán, Silvana Sandra Ana Martinez Duncker, Iván Asteggiano, Carla Gabriela |
author_role |
author |
author2 |
Silveira Ruiz, Silene Maité Salina, Roberta Pereira, Beatriz María Inés Cubilla, Marisa Angelica Pesaola, Favio Nicolas Ghione, Silvia Ramadán, Silvana Sandra Ana Martinez Duncker, Iván Asteggiano, Carla Gabriela |
author2_role |
author author author author author author author author author |
dc.subject.none.fl_str_mv |
Mass spectrometry Platelet membrane Glycoprofile PMM2-CDG Congenital disorders of glycosylation |
topic |
Mass spectrometry Platelet membrane Glycoprofile PMM2-CDG Congenital disorders of glycosylation |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/1.6 https://purl.org/becyt/ford/1 |
dc.description.none.fl_txt_mv |
Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as well as in lipid biosynthesis and glycosylphosphatidylinositol anchors. PMM2-CDG is caused by mutations in the phosphomannomutase-2 (PMM2) gene and shows autosomal recessive inheritance. It affects all organs and tissues, ranging from severe psychomotor retardation to moderate intellectual disability. Alterations in the primary haemostatic system have been reported in these patients and they can lead to severe bleeding or excessive thrombosis with subsequent vascular insufficiency. Despite of being the most common CDG, platelet glycosylation and sialylation defects in PMM2-CDG patients remain incompletely characterized. In this study, we applied a lectin-based flow cytometry approach to report the first characterization of the highly glycosylated platelet membrane glycan profile in a PMM2-CDG patient. In the PMM2-CDG patient?s platelet samples, a decreased binding of SNA lectin, indicative of reduced terminal α-2-6 sialic acid content, and an increased binding of PNA lectin, suggesting desialylation of β-1-Nacetylgalactosamine residues, were observed. Reduced expression of terminal sialic acids in platelet membrane glycoproteins may contribute to the increased risk of hemorrhage reported in these patients by promoting platelet clearance and thrombocytopenia Fil: Papazoglu, Gabriela Magali. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina Fil: Silveira Ruiz, Silene Maité. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; Argentina Fil: Salina, Roberta. Universidad Autónoma del Estado de Morelos.; México Fil: Pereira, Beatriz María Inés. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; Argentina Fil: Cubilla, Marisa Angelica. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina Fil: Pesaola, Favio Nicolas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina Fil: Ghione, Silvia. Argenlab San Francisco; Argentina Fil: Ramadán, Silvana Sandra Ana. Fundación Para El Progreso de la Medicina; Argentina Fil: Martinez Duncker, Iván. Universidad Autónoma del Estado de Morelos.; México Fil: Asteggiano, Carla Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina |
description |
Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as well as in lipid biosynthesis and glycosylphosphatidylinositol anchors. PMM2-CDG is caused by mutations in the phosphomannomutase-2 (PMM2) gene and shows autosomal recessive inheritance. It affects all organs and tissues, ranging from severe psychomotor retardation to moderate intellectual disability. Alterations in the primary haemostatic system have been reported in these patients and they can lead to severe bleeding or excessive thrombosis with subsequent vascular insufficiency. Despite of being the most common CDG, platelet glycosylation and sialylation defects in PMM2-CDG patients remain incompletely characterized. In this study, we applied a lectin-based flow cytometry approach to report the first characterization of the highly glycosylated platelet membrane glycan profile in a PMM2-CDG patient. In the PMM2-CDG patient?s platelet samples, a decreased binding of SNA lectin, indicative of reduced terminal α-2-6 sialic acid content, and an increased binding of PNA lectin, suggesting desialylation of β-1-Nacetylgalactosamine residues, were observed. Reduced expression of terminal sialic acids in platelet membrane glycoproteins may contribute to the increased risk of hemorrhage reported in these patients by promoting platelet clearance and thrombocytopenia |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-07 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/164028 Papazoglu, Gabriela Magali; Silveira Ruiz, Silene Maité; Salina, Roberta; Pereira, Beatriz María Inés; Cubilla, Marisa Angelica; et al.; Platelet Membrane Glycoprofiling in a PMM2-CDG Patien; Latin American Society Inborn Errors and Neonatal Screening. Instituto Genética para Todos; Journal of Inborn Errors of Metabolismo and Screening; 9; e20200030; 7-2021; 1-11 2326-4594 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/164028 |
identifier_str_mv |
Papazoglu, Gabriela Magali; Silveira Ruiz, Silene Maité; Salina, Roberta; Pereira, Beatriz María Inés; Cubilla, Marisa Angelica; et al.; Platelet Membrane Glycoprofiling in a PMM2-CDG Patien; Latin American Society Inborn Errors and Neonatal Screening. Instituto Genética para Todos; Journal of Inborn Errors of Metabolismo and Screening; 9; e20200030; 7-2021; 1-11 2326-4594 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://www.scielo.br/j/jiems/a/Wwp5rLqqSLrB3GkB39qMHjB/ info:eu-repo/semantics/altIdentifier/doi/10.1590/2326-4594-JIEMS-2020-0030 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening. Instituto Genética para Todos |
publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening. Instituto Genética para Todos |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
reponame_str |
CONICET Digital (CONICET) |
collection |
CONICET Digital (CONICET) |
instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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1844613934557954048 |
score |
13.070432 |