Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F18%3A10376874" target="_blank" >RIV/00064165:_____/18:10376874 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/18:10376874

Výsledek na webu

<a href="https://doi.org/10.1016/j.metabol.2018.01.004" target="_blank" >https://doi.org/10.1016/j.metabol.2018.01.004</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.metabol.2018.01.004" target="_blank" >10.1016/j.metabol.2018.01.004</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX

Popis výsledku v původním jazyce

Introduction: Apolipoprotein C-III (ApoC-III) is a mostly liver-derived serum O-glycoprotein, which is used, along with an N-glycoprotein transferrin (TF), as a marker in the biochemical screening for congenital disorders of glycosylation (CDG). However, it is increasingly evident that secondary glycosylation abnormalities might occur in other, non-CDG metabolic diseases. Material and Methods: Here we examined the glycosylation status of serum TF and Apo-CIII by isoelectric focusing, SDS-PAGE and MALDI TOE mass spectrometry in our group of 24 patients with various types of glycogen storage disorders (GSD; types 0. Ia. non-Ia, III and IX). Results: While in GSD types la and non-la we found variable and mild ApoC-III hyposialylation, GSD types III and IX showed significantly aberrant ApoC-III glycosylation with a characteristic relative increase of its aglycosylated form. No correlation was found between ApoC-III sialylation and triglyceridemia within the analyzed group. Conclusions: Due to a lack of an enzymatic assay for GSD type III and a certain unreliability of the assay for GSD type IX, our finding could help clinicians in differential diagnosis to better target and select appropriate genetic analysis for the suspected patients. We hypothesize that the detected profound ApoC-III hypoglycosylation in these two disorders results from reduced availability of the nucleotide-monosaccharides, specifically UDP-GaINAc, in the corresponding glycosylation reactions.

Název v anglickém jazyce

Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX

Popis výsledku anglicky

Introduction: Apolipoprotein C-III (ApoC-III) is a mostly liver-derived serum O-glycoprotein, which is used, along with an N-glycoprotein transferrin (TF), as a marker in the biochemical screening for congenital disorders of glycosylation (CDG). However, it is increasingly evident that secondary glycosylation abnormalities might occur in other, non-CDG metabolic diseases. Material and Methods: Here we examined the glycosylation status of serum TF and Apo-CIII by isoelectric focusing, SDS-PAGE and MALDI TOE mass spectrometry in our group of 24 patients with various types of glycogen storage disorders (GSD; types 0. Ia. non-Ia, III and IX). Results: While in GSD types la and non-la we found variable and mild ApoC-III hyposialylation, GSD types III and IX showed significantly aberrant ApoC-III glycosylation with a characteristic relative increase of its aglycosylated form. No correlation was found between ApoC-III sialylation and triglyceridemia within the analyzed group. Conclusions: Due to a lack of an enzymatic assay for GSD type III and a certain unreliability of the assay for GSD type IX, our finding could help clinicians in differential diagnosis to better target and select appropriate genetic analysis for the suspected patients. We hypothesize that the detected profound ApoC-III hypoglycosylation in these two disorders results from reduced availability of the nucleotide-monosaccharides, specifically UDP-GaINAc, in the corresponding glycosylation reactions.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30202 - Endocrinology and metabolism (including diabetes, hormones)

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Metabolism: Clinical and Experimental

ISSN

0026-0495

e-ISSN

—

Svazek periodika

82

Číslo periodika v rámci svazku

May

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

7

Strana od-do

135-141

Kód UT WoS článku

000434239500015

EID výsledku v databázi Scopus

2-s2.0-85042766238