TY - JOUR
T1 - Biomarker discovery by plasma proteomics in familial Brugada Syndrome
AU - Di Domenico, M.
AU - Scumaci, D.
AU - Grasso, S.
AU - Gaspari, M.
AU - Curcio, A.
AU - Curcio, Antonio
AU - Oliva, Antonio
AU - Ausania, F.
AU - Ausania, Francesco
AU - Di Nunzio, C.
AU - Ricciardi, C.
AU - Santini, A. C.
AU - Rizzo, F. A.
AU - Romano Carratelli, C.
AU - Lamberti, M.
AU - Conti, D.
AU - La Montagna, R.
AU - Tomei, V.
AU - Malafoglia, V.
AU - Pascali, Vincenzo Lorenzo
AU - Ricci, P.
AU - Indolfi, C.
AU - Costanzo, F.
AU - Cuda, Giovanni
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
KW - BRUGADA SYNDROME
KW - SUDDEN CARDIAC DEATH
KW - BRUGADA SYNDROME
KW - SUDDEN CARDIAC DEATH
UR - http://hdl.handle.net/10807/41473
U2 - 10.2741/4120
DO - 10.2741/4120
M3 - Article
SN - 1093-4715
VL - 18
SP - 564
EP - 571
JO - Frontiers in Bioscience
JF - Frontiers in Bioscience
ER -