Balkan Journal of Medical Genetics

INVESTIGATION OF CIRCULATING SERUM microRNA-328-3p AND microRNA-3135a EXPRESSION AS PROMISING NOVEL BIOMARKERS FOR AUTISM SPECTRUM DISORDER
Popov NT, Minchev DS, Naydenov MM, Minkov IN, Vachev TI
*Corresponding Author: Assistant Professor Tihomir I. Vachev, Ph.D., Department of Plant Phisyology and Molecular Biology, University of Plovdiv “Paisii Hilendarski,” 24 Tzar Assen Str., Plovdiv, Bulgaria. E-mail: tiho9@abv.bg
page: 5

INTRODUCTION

MicroRNAs (miRNAs) are small, single-stranded, non coding RNA molecules that regulate gene expression of their complementary messenger RNA targets [1,2]. Taking into account, the significance of these regulatory molecules in gene regulation, discovery of dysregulated miRNAs could benefit to clarify the molecular differences of miRNAs serum profiles between the autism spectrum disorder (ASD) subjects and typically developing children (TDC). The prevalence of ASD has increased considerably (from 2-5/10,000 to 1:68 children) during the last two decades [3,4]. Increased attention and changes made to the diagnostic criteria by the medical community have necessarily contributed to this tendency [5], as well as several environmental factors, acting particularly over early postnatal neurodevelopment and prenatal development [6]. In addition, advanced parental age at time of conception has also been shown to pose a risk of ASD [7]. Despite major advances in the understanding of ASD pathogenesis, inter individual heterogeneity and the levels of complexity has largely complicated the delivery of extensive scientific learning into efficient clinical practices. Currently, the golden standard to diagnose ASD is built on information from several sources: family caregivers, teachers, standardized behavioral scales and clinical observations. Also, pervasive development of the patients is only monitored by clinical scales with uncertain reliability, especially in early age. Specific and sensitive quantitative biomarkers, evaluated through experimental methods, electrophysiological techniques and brain imaging, would greatly support clinicians in providing more timely referrals to behavioral intervention programs’ earlier diagnoses and evidence-based prognosis [8]. Quantitative polymerase chain reaction (qPCR) technologies offer a accurate tools to search for specific miRNAs profiles applicable as potential biomarkers for neurodevelopmental disorders. The choice of miR-328-3p and miR-3135a as potential biomarkers in ASD is based mainly on our preliminary data showing differential expression changes of these miRNAs from small RNA sequencing. In addition, there is no scientific data on the role of these miRNAs in ASD, although the importance of many miRNA molecules has been shown in the etiopathogenesis of several neurological disorders. The current study was performed in order to shed light on the probable participation of miRNAs in ASD. The main aim of the current research was to analyze differential expression of miR-328-3p and miR-3135a in serum of ASD subjects and their relevance as potential blood-based biomarkers.

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