A new role for dolichol isoform profile in the diagnostics of CDG disorders
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F20%3A10411822" target="_blank" >RIV/00064165:_____/20:10411822 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00216208:11110/20:10411822
Výsledek na webu
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=8QBbek1x0c" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=8QBbek1x0c</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.cca.2020.04.012" target="_blank" >10.1016/j.cca.2020.04.012</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
A new role for dolichol isoform profile in the diagnostics of CDG disorders
Popis výsledku v původním jazyce
Dolichol is a membrane lipid which carries monosaccharides and glycans for N-linked protein glycosylation occurring in the endoplasmic reticulum. Recently, some types of congenital disorders of glycosylation (CDG) have been described as consequences of defects in dolichol biosynthesis and metabolism, yet these types of CDG are not detectable by standard screening methods. The aim of this project was to evaluate the potential of dolichol as a biomarker of CDG. Biological material for this study consisted of urine samples from 75 controls, 6 patients with CDG and 43 patients with suspicion of CDG; samples of the frontal cortex, liver, muscle and heart tissues from 2 patients with mutation in the NUS1 gene and controls. Molecular species profiles of dolichol were analyzed by liquid chromatography combined with tandem mass spectrometry. In the control group, a significant correlation between the ratio of dolichol 18 to dolichol 19 (Dol18/Dol19) and age was found in urine. We established a reference range for Dol18/Dol19 from urine samples. The ratio of Dol18/Dol19 was significantly higher in both urine and tissue samples from patients with mutation in NUS1 in comparison to controls. Our results show a novel diagnostic option for patients with rare congenital disorders of glycosylation.
Název v anglickém jazyce
A new role for dolichol isoform profile in the diagnostics of CDG disorders
Popis výsledku anglicky
Dolichol is a membrane lipid which carries monosaccharides and glycans for N-linked protein glycosylation occurring in the endoplasmic reticulum. Recently, some types of congenital disorders of glycosylation (CDG) have been described as consequences of defects in dolichol biosynthesis and metabolism, yet these types of CDG are not detectable by standard screening methods. The aim of this project was to evaluate the potential of dolichol as a biomarker of CDG. Biological material for this study consisted of urine samples from 75 controls, 6 patients with CDG and 43 patients with suspicion of CDG; samples of the frontal cortex, liver, muscle and heart tissues from 2 patients with mutation in the NUS1 gene and controls. Molecular species profiles of dolichol were analyzed by liquid chromatography combined with tandem mass spectrometry. In the control group, a significant correlation between the ratio of dolichol 18 to dolichol 19 (Dol18/Dol19) and age was found in urine. We established a reference range for Dol18/Dol19 from urine samples. The ratio of Dol18/Dol19 was significantly higher in both urine and tissue samples from patients with mutation in NUS1 in comparison to controls. Our results show a novel diagnostic option for patients with rare congenital disorders of glycosylation.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
10608 - Biochemistry and molecular biology
Návaznosti výsledku
Projekt
<a href="/cs/project/NV16-31932A" target="_blank" >NV16-31932A: Molekulární mechanismy dědičných poruch glykosylace</a><br>
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Ostatní
Rok uplatnění
2020
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Clinica Chimica Acta
ISSN
0009-8981
e-ISSN
—
Svazek periodika
507
Číslo periodika v rámci svazku
August
Stát vydavatele periodika
NL - Nizozemsko
Počet stran výsledku
6
Strana od-do
88-93
Kód UT WoS článku
000537623700012
EID výsledku v databázi Scopus
2-s2.0-85083373390