Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

ABSTRACT For the first time the glycosylation of a patient with a MPI‐CDG during pregnancy is monitored. MPI‐CDG, is characterised by a deficiency in mannose‐6‐phosphate isomerase (MPI) leading to a reduced pool of glycosylation precursors, impairing the biosynthesis of N‐glycans leading to N‐glycos...

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Autores principales:	Elodie Lebredonchel, Sandrine Duvet, Claire Douillard, François Foulquier, André Klein
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	CDG glycosylation mannose MPI pregnancy transferrin Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/ead49bbddb1644f689b4f75152da451e
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spelling	oai:doaj.org-article:ead49bbddb1644f689b4f75152da451e2021-11-08T13:27:18ZVariation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient2192-831210.1002/jmd2.12247https://doaj.org/article/ead49bbddb1644f689b4f75152da451e2021-11-01T00:00:00Zhttps://doi.org/10.1002/jmd2.12247https://doaj.org/toc/2192-8312ABSTRACT For the first time the glycosylation of a patient with a MPI‐CDG during pregnancy is monitored. MPI‐CDG, is characterised by a deficiency in mannose‐6‐phosphate isomerase (MPI) leading to a reduced pool of glycosylation precursors, impairing the biosynthesis of N‐glycans leading to N‐glycosylation defects. The abnormal N‐glycosylation profile with an elevation of asialotransferrin and disialotransferrin, typical of CDG type I, is assessable by transferrin isoelectrofocusing. Oral D‐mannose supplementation for MPI‐CDG patients has been widely used and improves clinical manifestations. The glycosylation of a MPI‐CDG patient during pregnancy without mannose supplementation was studied using carbohydrate deficient transferrin (CDT) assay, transferrin isoelectrofocusing (IEF) and mass spectrometry of total serum N‐glycans. A general improvement of the glycosylation profile of the patient due to a better transfer of the glycan precursors as well as an increase of the triantennary glycans (and sialylation) was observed. In conclusion, in the absence of mannose supplementation, the previously observed glycosylation abnormality of the MPI‐CDG patient was corrected. The molecular mechanism underlying this N‐glycosylation rescue during MPI‐CDG pregnancy further needs to be investigated.Elodie LebredonchelSandrine DuvetClaire DouillardFrançois FoulquierAndré KleinWileyarticleCDGglycosylationmannoseMPIpregnancytransferrinDiseases of the endocrine glands. Clinical endocrinologyRC648-665GeneticsQH426-470ENJIMD Reports, Vol 62, Iss 1, Pp 22-29 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	CDG glycosylation mannose MPI pregnancy transferrin Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
spellingShingle	CDG glycosylation mannose MPI pregnancy transferrin Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 Elodie Lebredonchel Sandrine Duvet Claire Douillard François Foulquier André Klein Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient
description	ABSTRACT For the first time the glycosylation of a patient with a MPI‐CDG during pregnancy is monitored. MPI‐CDG, is characterised by a deficiency in mannose‐6‐phosphate isomerase (MPI) leading to a reduced pool of glycosylation precursors, impairing the biosynthesis of N‐glycans leading to N‐glycosylation defects. The abnormal N‐glycosylation profile with an elevation of asialotransferrin and disialotransferrin, typical of CDG type I, is assessable by transferrin isoelectrofocusing. Oral D‐mannose supplementation for MPI‐CDG patients has been widely used and improves clinical manifestations. The glycosylation of a MPI‐CDG patient during pregnancy without mannose supplementation was studied using carbohydrate deficient transferrin (CDT) assay, transferrin isoelectrofocusing (IEF) and mass spectrometry of total serum N‐glycans. A general improvement of the glycosylation profile of the patient due to a better transfer of the glycan precursors as well as an increase of the triantennary glycans (and sialylation) was observed. In conclusion, in the absence of mannose supplementation, the previously observed glycosylation abnormality of the MPI‐CDG patient was corrected. The molecular mechanism underlying this N‐glycosylation rescue during MPI‐CDG pregnancy further needs to be investigated.
format	article
author	Elodie Lebredonchel Sandrine Duvet Claire Douillard François Foulquier André Klein
author_facet	Elodie Lebredonchel Sandrine Duvet Claire Douillard François Foulquier André Klein
author_sort	Elodie Lebredonchel
title	Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient
title_short	Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient
title_full	Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient
title_fullStr	Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient
title_full_unstemmed	Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient
title_sort	variation of the serum n‐glycosylation during the pregnancy of a mpi‐cdg patient
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/ead49bbddb1644f689b4f75152da451e
work_keys_str_mv	AT elodielebredonchel variationoftheserumnglycosylationduringthepregnancyofampicdgpatient AT sandrineduvet variationoftheserumnglycosylationduringthepregnancyofampicdgpatient AT clairedouillard variationoftheserumnglycosylationduringthepregnancyofampicdgpatient AT francoisfoulquier variationoftheserumnglycosylationduringthepregnancyofampicdgpatient AT andreklein variationoftheserumnglycosylationduringthepregnancyofampicdgpatient
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Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

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