Khan Muhammad S, Smego Douglas, Li Jing, Ishidoya Yuki, Offei Emmanuel, Ruiz Castillo Martha Sofia, Hirahara Annie M, Balmaceda Pia, Hunter Jennifer, Athavale Anand, Revelo Monica P, Palatinus Joseph A, Selzman Craig H, Ranjan Ravi, Hong TingTing, Dosdall Derek J, Shaw Robin M
Nora Eccles Harrison Cardiovascular Research and Training Institute, University of Utah, Salt Lake City, UT, 84112, USA.
Department of Surgery, Division of Cardiothoracic Surgery, University of Utah, Salt Lake City, UT, 84112, USA.
Commun Med (Lond). 2025 Mar 27;5(1):93. doi: 10.1038/s43856-025-00787-w.
Ischemic cardiomyopathy and resultant heart failure (HF) is a significant cause of morbidity and mortality worldwide. Downregulation of cardiac bridging integrator 1 (cBIN1), a membrane scaffolding protein responsible for organizing t-tubules and organizing the calcium handing apparatus, occurs in progressive HF. Therefore, gene therapy upregulating cBIN1 production may rescue failing muscle and clinical HF.
Adult mongrel dogs underwent ligation of the left anterior descending artery and developed progressive dilated cardiomyopathy and chronic HF. When left ventricular ejection fraction (LVEF) dropped below 40%, the animals received a one-time series of endocardial injections of either of low dose gene therapy composed of either adeno-associated virus serotype 9 packaged cBIN1 (AAV9-cBIN1, n = 6) or AAV9-GFP (green fluorescent protein, n = 4). Animals were followed up to 7 weeks after therapy delivery with laboratory, echocardiography, and endocardial mapping assessment.
Post injection of the negative control, animals develop progressive symptomatic HF requiring early termination of all but one animal prior to the end of the study. In contrast, the AAV9-cBIN1-treated group reveals a significant improvement in LV function, with a noticeable improvement in LVEF (29 ± 3% vs. 42 ± 2%, p = 0.0095) and global longitudinal strain (-7.1 ± 0.9% vs. -12.5 ± 1.6%, p = 0.0095). Compared to the control animals, the AAV9-cBIN1-treated group displays improved T-tubule morphology, left ventricular chamber size, plasma biomarkers, and endocardial voltage, and survives the study period.
Chronic HF from ischemic cardiomyopathy can be successfully treated with low dose AAV9-cBIN1 gene therapy. This study indicates that myocardial specific therapy can dramatically reverse HF progression.
缺血性心肌病及由此导致的心力衰竭(HF)是全球发病和死亡的重要原因。心脏桥连整合蛋白1(cBIN1)是一种负责组织横管和钙处理装置的膜支架蛋白,在进行性心力衰竭中表达下调。因此,上调cBIN1生成的基因治疗可能挽救衰竭的心肌和临床心力衰竭。
成年杂种犬接受左前降支动脉结扎,发展为进行性扩张型心肌病和慢性心力衰竭。当左心室射血分数(LVEF)降至40%以下时,动物接受一次性心内膜注射,注射低剂量基因治疗,治疗药物为9型腺相关病毒包装的cBIN1(AAV9-cBIN1,n = 6)或AAV9-绿色荧光蛋白(GFP,n = 4)。在治疗后对动物进行长达7周的随访,进行实验室检查、超声心动图检查和心内膜标测评估。
注射阴性对照后,动物出现进行性症状性心力衰竭,除一只动物外,所有动物均在研究结束前提前终止实验。相比之下,AAV9-cBIN1治疗组的左心室功能有显著改善,LVEF有明显提高(29±3%对42±2%,p = 0.0095),整体纵向应变也有改善(-7.1±0.9%对-12.5±1.6%,p = 0.0095)。与对照动物相比,AAV9-cBIN1治疗组的横管形态、左心室腔大小、血浆生物标志物和心内膜电压均有改善,并存活至研究期结束。
低剂量AAV9-cBIN1基因治疗可成功治疗缺血性心肌病引起的慢性心力衰竭。这项研究表明,心肌特异性治疗可显著逆转心力衰竭的进展。