Document Detail

Biomarker discovery by plasma proteomics in familial Brugada Syndrome.
MedLine Citation:
PMID:  23276942     Owner:  NLM     Status:  MEDLINE    
Brugada Syndrome (BS) is a polygenic inherited cardiac disease characterized by life-threatening arrhythmias and high incidence of sudden death. In this study, two-dimensional gel electrophoresis (2D-PAGE) coupled to mass spectrometry (LC-MS/MS) was used to investigate specific changes in the plasma proteome of BS patients and family members sharing the same gene mutation (SCN5AQ1118X), with the aim to identify novel disease biomarkers. Our data demonstrate that the levels of several proteins were significantly altered in BS patients compared with controls. In particular, apolipoprotein E, prothrombin, vitronectin, complement-factor H, vitamin-D-binding protein, voltage-dependent anion-selective channel protein 3 and clusterin were considerably increased in plasma sample of BS patients, whereas alpha-1-antitrypsin, fibrinogen and angiotensinogen were considerably decreased; moreover, post-translational modifications of antithrombin-III were detected in all affected individuals. On the light of these results, we hypothesize that these proteins might be considered as potential markers for the identification of disease status in BS.
M Di Domenico; D Scumaci; S Grasso; M Gaspari; A Curcio; A Oliva; F Ausania; C Di Nunzio; C Ricciardi; A C Santini; F A Rizzo; C Romano Carratelli; M Lamberti; D Conti; R La Montagna; V Tomei; V Malafoglia; V L Pascali; P Ricci; C Indolfi; F Costanzo; G Cuda
Publication Detail:
Type:  Journal Article     Date:  2013-01-01
Journal Detail:
Title:  Frontiers in bioscience (Landmark edition)     Volume:  18     ISSN:  1093-4715     ISO Abbreviation:  Front Biosci (Landmark Ed)     Publication Date:  2013  
Date Detail:
Created Date:  2013-01-01     Completed Date:  2013-06-12     Revised Date:  2013-07-29    
Medline Journal Info:
Nlm Unique ID:  101612996     Medline TA:  Front Biosci (Landmark Ed)     Country:  United States    
Other Details:
Languages:  eng     Pagination:  564-71     Citation Subset:  IM    
Department of Experimental and Clinical Medicine, University of Magna Graecia, Germaneto University Campus, 88100 Catanzaro, Italy.
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MeSH Terms
Antithrombin III / metabolism
Apolipoproteins E / genetics
Biological Markers / blood*
Brugada Syndrome / blood,  genetics*
Electrophoresis, Gel, Two-Dimensional
NAV1.5 Voltage-Gated Sodium Channel / genetics
Protein Processing, Post-Translational
Proteome / analysis*
Proteomics / methods
Prothrombin / genetics
Tandem Mass Spectrometry
alpha 1-Antitrypsin / genetics
Reg. No./Substance:
0/Apolipoproteins E; 0/Biological Markers; 0/NAV1.5 Voltage-Gated Sodium Channel; 0/Proteome; 0/SCN5A protein, human; 0/SERPINA1 protein, human; 0/alpha 1-Antitrypsin; 9000-94-6/Antithrombin III; 9001-26-7/Prothrombin

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