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

Result code in 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>

Alternative codes found

RIV/00216208:11110/18:10376874

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30202 - Endocrinology and metabolism (including diabetes, hormones)

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

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

Publication year

2018

Confidentiality

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

Name of the periodical

Metabolism: Clinical and Experimental

ISSN

0026-0495

e-ISSN

—

Volume of the periodical

82

Issue of the periodical within the volume

May

Country of publishing house

US - UNITED STATES

Number of pages

7

Pages from-to

135-141

UT code for WoS article

000434239500015

EID of the result in the Scopus database

2-s2.0-85042766238