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Journal of Applied Genetics 51(3), 2010, pp. 353-368

Gene expression profiling in peripheral blood nuclear cells in patients with refractory ischaemic end-stage heart failure

S. Szmit, M. Jank, H. Maciejewski, M. Grabowski, R. Glowczynska, A. Majewska, K. J. Filipiak, T. Motyl, G. Opolski

Abstract: Functional analysis of up- and down-regulated genes might reveal whether peripheral blood cells may be considered as a material of diagnostic or prognostic value in patients with end-stage heart failure (HF). The aim of the present study was to compare the transcriptomic profile of peripheral blood nuclear cells from 6 male patients with ischaemic end-stage HF with those of 6 male patients with asymptomatic cardiac dysfunction. The expression of genes in peripheral blood nuclear cells in both groups of patients was measured using whole-genome oligonucleotide microarrays utilizing 35 035 oligonucleotide probes. Microarray analyses revealed 130 down-regulated genes and 15 up-regulated genes in the patients with end-stage HF. Some of the down-regulated genes belonged to the pathways that other studies have shown to be down-regulated in cardiomyopathy. We also identified up-regulated genes that have been correlated with HF severity (CXCL16) and genes involved in the regulation of expression of platelet activation factor receptor (PTAFR, RBPSUH, MCC, and PSMA7). In conclusion, the identification of genes that are differentially expressed in peripheral blood nuclear cells of patients with HF supports the suggestion that this diagnostic approach may be useful in searching for the molecular predisposition for development of severe refractory HF in patients with post-infarction asymptomatic abnormalities and remodelling of the left ventricle. These results need further investigation and validation.

Key words: asymptomatic myocardial dysfunction, end-stage heart failure, gene expression profiling, peripheral blood nuclear cells

Correspondence: S. Szmit, First Department of Cardiology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland; e-mail:

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