J Clin Invest. 2013 Dec;123(12):5119-34. doi: 10.1172/JCI69076. Epub 2013 Nov 15.
A systems pharmacological approach that capitalizes on the characterization of intracellular signaling networks can transform our understanding of human diseases and lead to therapy development. Here, we applied this strategy to identify pharmacological targets for the treatment of Stargardt disease, a severe juvenile form of macular degeneration. Diverse GPCRs have previously been implicated in neuronal cell survival, and crosstalk between GPCR signaling pathways represents an unexplored avenue for pharmacological intervention. We focused on this receptor family for potential therapeutic interventions in macular disease. Complete transcriptomes of mouse and human samples were analyzed to assess the expression of GPCRs in the retina. Focusing on adrenergic (AR) and serotonin (5-HT) receptors, we found that adrenoceptor α 2C (Adra2c) and serotonin receptor 2a (Htr2a) were the most highly expressed. Using a mouse model of Stargardt disease, we found that pharmacological interventions that targeted both GPCR signaling pathways and adenylate cyclases (ACs) improved photoreceptor cell survival, preserved photoreceptor function, and attenuated the accumulation of pathological fluorescent deposits in the retina. These findings demonstrate a strategy for the identification of new drug candidates and FDA-approved drugs for the treatment of monogenic and complex diseases.
一种利用细胞内信号网络特征的系统药理学方法可以改变我们对人类疾病的理解,并为治疗方法的开发提供思路。在这里,我们应用这一策略来确定治疗斯塔加特病(一种严重的青少年黄斑变性形式)的药理学靶点。先前已经有多种 GPCR 被认为与神经元细胞存活有关,而 GPCR 信号通路之间的串扰则代表了一种尚未开发的药物干预途径。我们专注于这个受体家族,以寻找治疗黄斑疾病的潜在治疗干预措施。分析了小鼠和人类样本的完整转录组,以评估 GPCR 在视网膜中的表达情况。我们专注于肾上腺素能 (AR) 和 5-羟色胺 (5-HT) 受体,发现肾上腺素能受体 α2C (Adra2c) 和 5-羟色胺受体 2a (Htr2a) 的表达水平最高。在斯塔加特病的小鼠模型中,我们发现靶向两种 GPCR 信号通路和腺苷酸环化酶 (AC) 的药物干预可以改善感光细胞的存活,维持感光细胞的功能,并减轻视网膜中病理性荧光沉积物的积累。这些发现为鉴定新的药物候选物和 FDA 批准的药物治疗单基因和复杂疾病提供了一种策略。