Title :

Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies

Author(s) :

Haouari, Walid [Auteur]
Physiopathologie et traitement des maladies du foie
Dubail, Johanne [Auteur]
Imagine - Institut des maladies génétiques [IMAGINE - U1163]
Lounis‐Ouaras, Samra [Auteur]
Physiopathologie et traitement des maladies du foie
Prada, Pierre [Auteur]
AP-HP - Hôpital Bichat - Claude Bernard [Paris]
Bennani, Rizk [Auteur]
AP-HP - Hôpital Bichat - Claude Bernard [Paris]
Roseau, Charles [Auteur]
Physiopathologie et traitement des maladies du foie
Huber, Céline [Auteur]
Imagine - Institut des maladies génétiques [IMAGINE - U1163]
Afenjar, Alexandra [Auteur]
CHU Trousseau [APHP]
Colin, Estelle [Auteur]
Centre Hospitalier Universitaire d'Angers [CHU Angers]
Vuillaumier‐Barrot, Sandrine [Auteur]
AP-HP - Hôpital Bichat - Claude Bernard [Paris]
Seta, Nathalie [Auteur]
AP-HP - Hôpital Bichat - Claude Bernard [Paris]
Foulquier, Francois [Auteur]
Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 [UGSF]
Poüs, Christian [Auteur]
Physiopathologie et traitement des maladies du foie
Cormier‐Daire, Valérie [Auteur]
Imagine - Institut des maladies génétiques [IMAGINE - U1163]
Bruneel, Arnaud [Auteur]
Physiopathologie et traitement des maladies du foie

Journal title :

Journal of Inherited Metabolic Disease

Abbreviated title :

Jrnl of Inher Metab Disea

Volume number :

43

Pages :

1349-1359

Publisher :

Wiley

Publication date :

2020-08-07

English keyword(s) :

bikunin
CDG
GAG tetrasaccharide
inter‐α‐trypsin inhibitor
linkeropathies
SLC35A3
TMEM165

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Bikunin (Bkn) isoforms are serum chondroitin sulfate (CS) proteoglycans synthesized by the liver. They include two light forms, that is, the Bkn core protein and the Bkn linked to the CS chain (urinary trypsin inhibitor ...
Show more >Bikunin (Bkn) isoforms are serum chondroitin sulfate (CS) proteoglycans synthesized by the liver. They include two light forms, that is, the Bkn core protein and the Bkn linked to the CS chain (urinary trypsin inhibitor [UTI]), and two heavy forms, that is, pro‐α‐trypsin inhibitor and inter‐α‐trypsin inhibitor, corresponding to UTI esterified by one or two heavy chains glycoproteins, respectively. We previously showed that the Western‐blot analysis of the light forms could allow the fast and easy detection of patients with linkeropathy, deficient in enzymes involved in the synthesis of the initial common tetrasaccharide linker of glycosaminoglycans. Here, we analyzed all serum Bkn isoforms in a context of congenital disorders of glycosylation (CDG) and showed very specific abnormal patterns suggesting potential interests for their screening and diagnosis. In particular, genetic deficiencies in V‐ATPase (ATP6V0A2‐CDG, CCDC115‐CDG, ATP6AP1‐CDG), in Golgi manganese homeostasis (TMEM165‐CDG) and in the N‐acetyl‐glucosamine Golgi transport (SLC35A3‐CDG) all share specific abnormal Bkn patterns. Furthermore, for each studied linkeropathy, we show that the light abnormal Bkn could be further in‐depth characterized by two‐dimensional electrophoresis. Moreover, besides being interesting as a specific biomarker of both CDG and linkeropathies, Bkn isoforms' analyses can provide new insights into the pathophysiology of the aforementioned diseases.Show less >

Language :

Anglais

Audience :

Non spécifiée

European Project :

ERA-NET rare disease research implementing IRDiRC objectives

ANR Project :

A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders.

Administrative institution(s) :

Université de Lille
CNRS

Collections :

• Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576

Research team(s) :

Mécanismes moléculaires de la N-glycosylation et pathologies associées

Submission date :

2021-03-23T14:58:17Z
2021-03-24T09:07:47Z