title: Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE.
abstract: Congenital disorders of glycosylation (CDG) comprise a family of inherited multisystemic disorders resulting from the deficiency of glycosylation pathways. N-glycosylation defects are classified as two biochemical and genetic established types, of which CDG-Ia is the most frequent. We performed 2-DE proteomic analysis on serum from two functional hemizygous CDG-Ia patients bearing T237M and D65Y missense changes. Comparative analysis of control/patient serum proteome allowed us to identify differential expression of 14 proteins. The most remarkable groups included proteins involved in immune response, coagulation mechanism and tissue protection against oxidative stress. The patient bearing D65Y mutation had less favourable clinical outcome and showed more abnormalities in the spot patterns, suggesting that the proteomic results might also be correlated with the phenotype of CDG patients. This study describes for the first time the differential expression of alpha(2)-macroglobulin, afamin, fibrin and fibrinogen in CDG disorder and shows how the proteomic approach might be useful for understanding its physiopathology.
authors.affiliation: Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
authors.forename: Eva
authors.initials: E
authors.lastname: Richard
authors.forename: Ana I
authors.initials: AI
authors.lastname: Vega
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez
authors.forename: Carmen
authors.initials: C
authors.lastname: Roche
authors.forename: Ramón
authors.initials: R
authors.lastname: Velázquez
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ugarte
authors.forename: Celia
authors.initials: C
authors.lastname: Pérez-Cerdá
mesh_terms: D002352:Carrier Proteins / Q000096:biosynthesis / Q000097:blood; D002648:Child; D002675:Child, Preschool; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D005337:Fibrin / Q000032:analysis / Q000096:biosynthesis; D005340:Fibrinogen / Q000032:analysis / Q000096:biosynthesis; D006023:Glycoproteins / Q000096:biosynthesis / Q000097:blood; D006031:Glycosylation; D006801:Humans; D007525:Isoelectric Focusing; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000235:genetics / Q000378:metabolism; D014176:Protein Biosynthesis; D011506:Proteins / Q000032:analysis*; D020543:Proteome / Q000032:analysis*; D040901:Proteomics; D044967:Serum / Q000378:metabolism*; D012709:Serum Albumin / Q000096:biosynthesis; D000075462:Serum Albumin, Human; D014168:Transferrin / Q000032:analysis / Q000096:biosynthesis; D000515:alpha 1-Antitrypsin / Q000096:biosynthesis / Q000097:blood; D000511:alpha-Macroglobulins / Q000032:analysis / Q000096:biosynthesis
chemical_list: C088246:AFM protein, human; D002352:Carrier Proteins; D006023:Glycoproteins; D011506:Proteins; D020543:Proteome; D012709:Serum Albumin; D014168:Transferrin; D000515:alpha 1-Antitrypsin; D000511:alpha-Macroglobulins; D005337:Fibrin; D005340:Fibrinogen; D000075462:Serum Albumin, Human