1 Cardiovascular Institute, Pittsburgh, Pennsylvania.
2 Gene Therapy Program, Pittsburgh, Pennsylvania.
Hum Gene Ther. 2017 Aug;28(8):681-689. doi: 10.1089/hum.2017.040.
Pulmonary arterial hypertension (PAH) is a progressive disease that culminates in right heart failure and death. Prostacyclin (PGI2) and its derivatives are effective treatments for PAH when administered as continuous parenteral infusions. This treatment paradigm requires medical sophistication, and patients are at risk for complications from an indewelling catheter; drug interruptions may result in rebound pulmonary hypertension and death. We hypothesized that the salivary gland can be repurposed into an endogenous production site for circulating PGI2 through the expression of a fusion protein embodying cyclooxygenase-1 (Cox1) and prostacyclin synthase (PGIS) domains. We utilized ultrasound-assisted gene transfer, a nonviral gene transfer strategy that achieves robust gene transfer to the salivary gland. We initially found that Cox1-PGIS expression in livers of mice using an adenoviral vector dramatically increased circulating PGI2 relative to untreated rats or rats treated with PGIS alone. We then utilized ultrasound-assisted gene transfer to express Cox1-PGIS in the submandibular glands of rats and showed a significant elevation of circulating PGI2 that corresponded to approximately 30% of that seen in humans undergoing intravenous infusion therapy for PAH. These results suggest the feasibility of gene therapy to drive endogenous biosynthesis of PGI2 as a therapeutic strategy for the treatment of PAH.
肺动脉高压(PAH)是一种进行性疾病,最终导致右心衰竭和死亡。前列环素(PGI2)及其衍生物作为连续的肠外输注时,是治疗 PAH 的有效方法。这种治疗模式需要医学专业知识,并且患者留置导管存在并发症风险;药物中断可能导致肺动脉高压反弹和死亡。我们假设通过表达包含环加氧酶-1(Cox1)和前列环素合酶(PGIS)结构域的融合蛋白,可以将唾液腺重新用作循环 PGI2 的内源性产生部位。我们利用超声辅助基因转移,这是一种非病毒基因转移策略,可以实现唾液腺的有效基因转移。我们最初发现,使用腺相关病毒载体在小鼠肝脏中表达 Cox1-PGIS 可显著增加循环 PGI2,与未治疗的大鼠或仅用 PGIS 治疗的大鼠相比。然后,我们利用超声辅助基因转移在大鼠颌下腺中表达 Cox1-PGIS,并显示出循环 PGI2 的显著升高,与接受静脉内输注治疗 PAH 的人类中观察到的大约 30%相当。这些结果表明,通过基因治疗驱动内源性 PGI2 生物合成作为治疗 PAH 的治疗策略是可行的。