Mora Cristina, Serzanti Marialaura, Giacomelli Alessio, Beltramone Silvia, Marchina Eleonora, Bertini Valeria, Piovani Giovanna, Refsgaard Lena, Olesen Morten Salling, Cortellini Venusia, Dell'Era Patrizia
Cellular Fate Reprogramming Unit, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Stem Cell Res. 2017 Oct;24:8-11. doi: 10.1016/j.scr.2017.08.007. Epub 2017 Aug 10.
Atrial fibrillation (AF) is the most common sustained arrhythmia associated with several cardiac risk factors, but increasing evidences indicated a genetic component. Indeed, genetic variations of the specific PITX2 gene have been identified in patients with early-onset AF. To investigate the molecular mechanisms underlying AF, we reprogrammed to pluripotency polymorphonucleated leukocytes isolated from the blood of a patient carrying a PITX2 p.M200V mutation, using a commercially available non-integrating expression system. The generated iPSCs expressed pluripotency markers and differentiated toward cells belonging to the three embryonic germ layers. Moreover, the cells showed a normal karyotype and retained the PITX2 p.M200V mutation.
心房颤动（AF）是与多种心脏危险因素相关的最常见的持续性心律失常，但越来越多的证据表明其存在遗传因素。事实上，已在早发性AF患者中鉴定出特定PITX2基因的遗传变异。为了研究AF潜在的分子机制，我们使用市售的非整合表达系统，将从携带PITX2 p.M200V突变患者血液中分离的多形核白细胞重编程为多能性细胞。所产生的诱导多能干细胞（iPSC）表达多能性标志物，并向属于三个胚胎胚层的细胞分化。此外，这些细胞显示出正常的核型，并保留了PITX2 p.M200V突变。
