Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.

Abstract

Apolipoprotein C-III (apoCIII) is a small glycoprotein with a single mucin-type core-1 oligosaccharide and is analyzed by isoelectric focusing (IEF) for the diagnosis of genetic defects in O-glycan biosynthesis such as congenital disorders of glycosylation. In the present study, mass spectrometry of apoCIII, after a simple procedure for sample preparation using a small amount of serum, was demonstrated to be a reliable alternative to IEF. It allows reproducible glycan profiling and detection of unglycosylated species. This method was applied to an autosomal recessive cutis laxa type-2 patient and demonstrated decreased site occupancy by O-glycosylation.

• Authors: Yoshinao Wada, Machiko Kadoya, Nobuhiko Okamoto
• Journal: Glycobiology (Glycobiology) Vol. 22 Issue 8 Pg. 1140-4 (Aug 2012) ISSN: 1460-2423 [Electronic] England
• PMID: 22611120 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Apolipoprotein C-III
• Mucins
• Polysaccharides

Topics

• Apolipoprotein C-III (blood)
• Blotting, Western
• Carbohydrate Metabolism, Inborn Errors (blood, diagnosis)
• Case-Control Studies
• Child
• Cutis Laxa (blood, congenital, diagnosis)
• Glycosylation
• Humans
• Isoelectric Focusing
• Mucins (metabolism)
• Polysaccharides (metabolism)
• Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization