Kolwicz Stephen C, Odom Guy L, Nowakowski Sarah G, Moussavi-Harami Farid, Chen Xiaolan, Reinecke Hans, Hauschka Stephen D, Murry Charles E, Mahairas Gregory G, Regnier Michael
Mitochondria and Metabolism Center, University of Washington, Seattle, Washington, USA.
Department of Neurology, University of Washington, Seattle, Washington, USA.
Mol Ther. 2016 Feb;24(2):240-250. doi: 10.1038/mt.2015.176. Epub 2015 Sep 21.
Impaired systolic function, resulting from acute injury or congenital defects, leads to cardiac complications and heart failure. Current therapies slow disease progression but do not rescue cardiac function. We previously reported that elevating the cellular 2 deoxy-ATP (dATP) pool in transgenic mice via increased expression of ribonucleotide reductase (RNR), the enzyme that catalyzes deoxy-nucleotide production, increases myosin-actin interaction and enhances cardiac muscle contractility. For the current studies, we initially injected wild-type mice retro-orbitally with a mixture of adeno-associated virus serotype-6 (rAAV6) containing a miniaturized cardiac-specific regulatory cassette (cTnT(455)) composed of enhancer and promotor portions of the human cardiac troponin T gene (TNNT2) ligated to rat cDNAs encoding either the Rrm1 or Rrm2 subunit. Subsequent studies optimized the system by creating a tandem human RRM1-RRM2 cDNA with a P2A self-cleaving peptide site between the subunits. Both rat and human Rrm1/Rrm2 cDNAs resulted in RNR enzyme overexpression exclusively in the heart and led to a significant elevation of left ventricular (LV) function in normal mice and infarcted rats, measured by echocardiography or isolated heart perfusions, without adverse cardiac remodeling. Our study suggests that increasing RNR levels via rAAV-mediated cardiac-specific expression provide a novel gene therapy approach to potentially enhance cardiac systolic function in animal models and patients with heart failure.
急性损伤或先天性缺陷导致的收缩功能受损会引发心脏并发症和心力衰竭。目前的治疗方法虽能减缓疾病进展,但无法恢复心脏功能。我们之前报道过,通过增加核糖核苷酸还原酶(RNR,催化脱氧核苷酸生成的酶)的表达,提高转基因小鼠细胞内的2-脱氧三磷酸腺苷(dATP)水平,可增强肌球蛋白-肌动蛋白相互作用并提高心肌收缩力。在当前研究中,我们最初经眶后给野生型小鼠注射了腺相关病毒6型(rAAV6)混合物,该病毒含有一个小型化的心脏特异性调控盒(cTnT(455)),其由人心脏肌钙蛋白T基因(TNNT2)的增强子和启动子部分与编码Rrm1或Rrm2亚基的大鼠cDNA连接而成。后续研究通过构建一个串联的人RRM1-RRM2 cDNA,在亚基之间设置一个P2A自切割肽位点,对该系统进行了优化。大鼠和人Rrm1/Rrm2 cDNA均导致RNR酶仅在心脏中过度表达,并通过超声心动图或离体心脏灌注测量发现,正常小鼠和梗死大鼠的左心室(LV)功能显著提高,且无不良心脏重塑。我们的研究表明,通过rAAV介导的心脏特异性表达来提高RNR水平,为潜在增强动物模型和心力衰竭患者心脏收缩功能提供了一种新的基因治疗方法。