Open Access
Biomarker discovery by plasma proteomics in familial Brugada Syndrome
M. Di Domenico1,2,#,D. Scumaci3,#,S. Grasso3,M. Gaspari3,A. Curcio3,A. Oliva4,F. Ausania3,C. Di Nunzio3,C. Ricciardi1,A. C. Santini5,F. A. Rizzo6,C. Romano Carratelli6,M. Lamberti7,D. Conti2,8,R. La Montagna2,V. Tomei2,8,V. Malafoglia2,8,V.L. Pascali4,P. Ricci3,C. Indolfi3,F. Costanzo3,G. Cuda3,*
Department of General Pathology, II University, Naples, Italy
Sbarro Institute for Cancer Research and Molecular Medicine, Center for Biotechnology, Temple University, Philadelphia, PA, USA
Department of Experimental and Clinical Medicine, Magna Graecia University, Catanzaro, Italy
Institute of Forensic Medicine, Catholic University, School of Medicine, Rome, Italy
Thoracic Surgery Unit, Second University of Naples, Naples, Italy
Department of Experimental Medicine, Section of Microbiology and Clinical Microbiology, II University, Naples, Italy
Department of Experimental Medicine, Section of Occupational Medicine, Hygiene and Industrial Toxicology, II University, Naples, Italy, 8Department of Human Pathology and Oncology University of Siena, Siena, Italy
DOI: 10.2741/4120 Volume 18 Issue 2, pp.564-571
Published: 01 January 2013
(This article belongs to the Special Issue Gene targets for modulating cell growth)
*Corresponding Author(s):  
G. Cuda
#MDD and DS are equally sharing first authorship

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.

Key words

Brugada syndrome, Serum proteomics, Early diagnosis, Biomarkers, Mass spectrometry

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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. Biomarker discovery by plasma proteomics in familial Brugada Syndrome. Frontiers in Bioscience-Landmark. 2013. 18(2); 564-571.