TY - JOUR T1 - Mitochondrial tRNA gene mutations in patients with idiopathic pulmonary fibrosis (IPF) and sarcoidosis JF - European Respiratory Journal JO - Eur Respir J VL - 44 IS - Suppl 58 SP - P824 AU - Sotiria Peletidou AU - Emily Zifa AU - Alexandros Grammatikopoulos AU - Fotini Malli AU - Fotini Bardaka AU - Konstantinos I. Gourgoulianis AU - Zissis Mamuris AU - Zoe Daniil Y1 - 2014/09/01 UR - http://erj.ersjournals.com/content/44/Suppl_58/P824.abstract N2 - INTRODUCTION:Damaged mitochondrial proteins, resulting from mitochondrial DNA mutations, may lead to sustained ROS generation from mitochondria which may attack cellular constitutes, leading to tissue injury associated with IPF and sarcoidosis. However, literature lacks data regarding mitochondrial dysfunction as a potential contributing factor in the redox imbalance associated with these diseases.OBJECTIVE:The aim of our study was to investigate the potential association of mitochondrial dysfunction with Sarcoidosis and IPF, and to this end we performed mutations screening of all mitochondrial tRNA genes in patients with IPF and sarcoidosis as well as in a control group.METHODS:We performed mutation screening of all mitochondrial tRNA genes and its flanking regions in 62 patients: 46 patients with sarcoidosis and 16 patients with IPF, and 204 healthy volunteers served as control group.RESULTS:In the sarcoidosis group we have identified 3 patients (7.14%) carrying the G5773A(Cys)/A5843G(Tyr). 25% of patients with IPF and 10% of patients with sarcoidosis carried the A12308G. The T12189C(His) was detected in 8.33% of patients with IPF.14% of patients with sarcoidosis carried the G15928A(Thr). Along with all tRNA mitochondrial genes, part of its flanking regions was analyzed. The T5495C(ND2) and A5656G(NC4) were identified in 25% of patients and 6.25% respectively in the IPF group.CONCLUSIONS:Our preliminary findings have revealed pointed mutations which are predominantly polymorphisms. In order to clarify the role of these variants and its possible clinical implication, further number of patients with IPF and sarcoidosis will be included in the study. ER -