title: 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.affiliation: Department of Molecular Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. waday@mch.pref.osaka.jp
authors.forename: Yoshinao
authors.initials: Y
authors.lastname: Wada
authors.forename: Machiko
authors.initials: M
authors.lastname: Kadoya
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
mesh_terms: D053305:Apolipoprotein C-III / Q000097:blood*; D015153:Blotting, Western; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis; D016022:Case-Control Studies; D002648:Child; D003483:Cutis Laxa / Q000097:blood / Q000151:congenital* / Q000175:diagnosis; D006031:Glycosylation; D006801:Humans; D007525:Isoelectric Focusing; D009077:Mucins / Q000378:metabolism*; D011134:Polysaccharides / Q000378:metabolism*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D053305:Apolipoprotein C-III; D009077:Mucins; D011134:Polysaccharides