A new role for dolichol isoform profile in the diagnostics of CDG disorders.
Clin Chim Acta
; 507: 88-93, 2020 Aug.
Article
em En
| MEDLINE
| ID: mdl-32289257
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Defeitos Congênitos da Glicosilação
/
Dolicóis
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
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Aged
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Aged80
/
Child
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Child, preschool
/
Female
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Humans
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Infant
/
Male
Idioma:
En
Revista:
Clin Chim Acta
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
República Tcheca