title: MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.
abstract: OBJECTIVE
  The O-glycan abnormalities accompanying some congenital disorders of glycosylation, namely conserved oligomeric Golgi-congenital disorders of glycosylation (COG-CDGs) and ATP6V0A2-CDGs, are mainly detected using electrophoresis methods applied to circulating apolipoprotein C-III. The objective of this study was to evaluate the reliability of MALDI-TOF MS of apoC-III for the detection and characterization of CDG-associated O-glycan defects.
  
  
  METHODS
  plasmas from CDG-negative, COG-CDG, and ATP6V0A2-CDG patients were analyzed and results were compared to those obtained using 2DE followed by Western blot.
  
  
  RESULTS
  MALDI-TOF of apoC-III allowed to detect various significant O-glycan abnormalities in CDG-patients with emphasis to COG-CDG. Furthermore, in CDG samples, comparison study between 2DE and MALDI-TOF showed a particular behavior of monosialylated apoC-III in the mass spectrometer that could be related to an abnormal O-glycan structure.
  
  
  CONCLUSIONS
  MALDI-TOF MS appears as a powerful technique for the analysis of apoC-III glycoforms for potential routine screening of COG- and ATP6V0A2-CDGs.
authors: Trans-Prot, Proteomic facility, Université Paris-Sud, Châtenay-Malabry, France.
authors: Stéphanie
authors: S
authors: Yen-Nicolaÿ
authors: Trans-Prot, Proteomic facility, Université Paris-Sud, Châtenay-Malabry, France.
authors: Céline
authors: C
authors: Boursier
authors: Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors: Marlène
authors: M
authors: Rio
authors: Laboratory of Genetics, Endocrine and Metabolic Diseases, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors: Dirk J
authors: DJ
authors: Lefeber
authors: EA4530, Dynamique des microtubules en physiopathologie, Faculté de Pharmacie, Université Paris-Sud, Châtenay-Malabry, France.|APHP, Unité d'Hormonologie et Immunoanalyse, Pôle de Biologie Médicale et Pathologie, Hôpitaux Universitaires Est Parisien, Paris, France.
authors: Antoine
authors: A
authors: Pilon
authors: AP-HP, Biochimie métabolique et cellulaire, hôpital Bichat, Paris, France.
authors: Nathalie
authors: N
authors: Seta
authors: EA4530, Dynamique des microtubules en physiopathologie, Faculté de Pharmacie, Université Paris-Sud, Châtenay-Malabry, France.|AP-HP, Biochimie métabolique et cellulaire, hôpital Bichat, Paris, France.
authors: Arnaud
authors: A
authors: Bruneel
mesh_terms: D053305:Apolipoprotein C-III / Q000378:metabolism*; D015153:Blotting, Western; D018981:Congenital Disorders of Glycosylation / Q000378:metabolism*; D015180:Electrophoresis, Gel, Two-Dimensional / Q000379:methods*; D006023:Glycoproteins / Q000378:metabolism*; D006801:Humans; D009077:Mucins / Q000737:chemistry / Q000378:metabolism; D011134:Polysaccharides / Q000737:chemistry / Q000378:metabolism; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods*
chemical_list: D053305:Apolipoprotein C-III; D006023:Glycoproteins; D009077:Mucins; D011134:Polysaccharides
keywords: ATP6V0A2; Apolipoprotein C-III; CDG; COG complex; MALDI-TOF; O-glycosylation