Balkan Journal of Medical Genetics

A PRELIMINARY microRNA ANALYSIS OF NON SYNDROMIC THORACIC AORTIC ANEURYSMS
Patuzzo C1,*, Pasquali A1, Malerba G1, Trabetti E1, Pignatti PF1, Tessari M2, Faggian G2
*Corresponding Author: Dr. Cristina Patuzzo, Department of Life and Reproduction Sciences, University of Verona, Strada Le Grazie 8, 37134,Verona, Italy; Tel.: +39-45-802-7207; Fax: +39-45-802-7180; E-mail: cristina.patuzzo@univr.it
page: 51

INTRODUCTION

Thoracic aortic aneurysms (TAAs) are characterized by a pathological enlargement of the aorta caused by a maladaptive remodeling of the vessel in response to stress and physiological stimuli. The physiological remodeling process within the aortic vascular wall operates to maintain normal aortic function, whereas pathological remodeling can result in excessive degradation of critical extracellular matrix (ECM) components, leading to the loss of mechanical strength and integrity, aortic dilation, dissection, or rupture. While more than 20.0% TAAs are inherited as a single gene disorder (e.g., fibrillin-1 gene, FBN1, in Marfan syndrome), the majority of cases are sporadic [1]. The aneurysmal process is now understood to be driven by an unbalanced production of extracellular proteases and inhibitors, but the upstream signalling events are still largely unknown, and especially so for non syndromic events [2]. As recently indicated, an impairment of fine tuning of gene expression in the arterial wall could be related to an altered microRNAs (miRNAs) expression pattern [3]. MicroRNAs are a class of endogenous, small, non coding RNAs regulating the expression of protein-coding genes through pairing with sites in the 3’ untranslated region (3’UTR) of their messenger RNA. Due to a perfect or imperfect match, every miRNA may regulate the expression of one or more genes, and it is likely that at least 30.0% of the genes in a cell may be directly regulated by miRNAs [4]. Recent studies have demonstrated that miRNAs are highly expressed in the vasculature and act as important determinants of disease for the cardiovascular system [5]. In particular, two recent studies in humans have reported altered miRNA expression patterns in TAAs and in thoracic aortic dissection after real time-polymerase chain reaction (ReTi-PCR) or by microarray analysis, respectively [6,7]. Although not yet fully demonstrated, vascular gene expression is thought to be sex related [8-10]. The aim of this study was to compare the miRNA profiles of ascending aortas from TAA patients and controls by microarray analysis. To check for a possible sex effect, different hybridizations were performed for male and female RNA pools.

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