TY - JOUR T1 - Circulating microRNAs as potential biomarkers in alpha-1 antitrypsin deficiency patients JF - European Respiratory Journal JO - Eur Respir J VL - 44 IS - Suppl 58 SP - P2038 AU - Francisco Dasi AU - Sara Pastor AU - Manuel Mata AU - Monica Amor AU - Eva Serna AU - Silvia Castillo AU - Francisco Sanz AU - Pilar CodoƱer-Franch AU - Amparo Escribano Y1 - 2014/09/01 UR - http://erj.ersjournals.com/content/44/Suppl_58/P2038.abstract N2 - Background:Alpha-1 antitrypsin deficiency (AATD) is a hereditary condition that leads to decreased circulating AAT levels, significantly increasing the risk of serious lung and liver disease in children and adults. AATD is a highly under-diagnosed condition and shows a high degree of variability. AAT serum levels and phenotype are not enough to identify those patients that will develop severe lung or liver pathology.Rationale and aims: MicroRNAs (miRNAs) regulate gene expression and have been associated with the pathogenesis of several lung and liver diseases. Cell-free circulating miRNAs may serve as diagnostic biomarkers of AATD but the miRNAs profile in AATD is currently unknown. This study is aimed to find a plasma miRNA expression profile in AATD that can assist diagnosis.Methods: Thirty children with AATD were prospectively included in the study. Patients were classified in three risk groups of developing lung disease: low (MM; MS; SS phenotypes), intermediate (MZ; SZ) and high risk (ZZ). Plasma miRNA expression profiling was performed by using GeneChip miRNA 3.0 Arrays (Affymetrix). Differentially expressed miRNAs were validated by qRT-PCR.Results: A profile of 32 plasma miRNAs, which can potentially serve as biomarkers for AATD, was found. These miRNAs were validated in 145 patients with AATD and 9 miRNAs were found to be significantly deregulated, which can potentially serve as biomarkers for AATD diagnosis.Conclusions:The analysis of plasma miRNAs profile in AATD individuals has established a genetic signature that differentiates the different risk groups. Therefore, miRNA expression analysis may open new ways of diagnosing and monitoring lung and liver damage associated to AATD. ER -