IMR Press / FBL / Volume 18 / Issue 2 / DOI: 10.2741/4120

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article
Biomarker discovery by plasma proteomics in familial Brugada Syndrome
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1 Department of General Pathology, II University, Naples, Italy
2 Sbarro Institute for Cancer Research and Molecular Medicine, Center for Biotechnology, Temple University, Philadelphia, PA, USA
3 Department of Experimental and Clinical Medicine, Magna Graecia University, Catanzaro, Italy
4 Institute of Forensic Medicine, Catholic University, School of Medicine, Rome, Italy
5 Thoracic Surgery Unit, Second University of Naples, Naples, Italy
6 Department of Experimental Medicine, Section of Microbiology and Clinical Microbiology, II University, Naples, Italy
7 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
#MDD and DS are equally sharing first authorship
Academic Editor:Antonio Giordano
Front. Biosci. (Landmark Ed) 2013, 18(2), 564–571; https://doi.org/10.2741/4120
Published: 1 January 2013
(This article belongs to the Special Issue Gene targets for modulating cell growth)
Abstract

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.

Keywords
Brugada syndrome
Serum proteomics
Early diagnosis
Biomarkers
Mass spectrometry
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