Langhauser Friederike, Casas Ana I, Dao Vu-Thao-Vi, Guney Emre, Menche Jörg, Geuss Eva, Kleikers Pamela W M, López Manuela G, Barabási Albert-L, Kleinschnitz Christoph, Schmidt Harald H H W
1Department of Neurology, University Hospital Würzburg, Josef-Schneider-Straße 11, 97080 Würzburg, Germany.
2Department of Neurology, University Hospital Essen, Hufelandstraße 55, D-45147 Essen, Germany.
NPJ Syst Biol Appl. 2018 Feb 5;4:8. doi: 10.1038/s41540-017-0039-7. eCollection 2018.
Network medicine utilizes common genetic origins, markers and co-morbidities to uncover mechanistic links between diseases. These links can be summarized in the diseasome, a comprehensive network of disease-disease relationships and clusters. The diseasome has been influential during the past decade, although most of its links are not followed up experimentally. Here, we investigate a high prevalence unmet medical need cluster of disease phenotypes linked to cyclic GMP. Hitherto, the central cGMP-forming enzyme, soluble guanylate cyclase (sGC), has been targeted pharmacologically exclusively for smooth muscle modulation in cardiology and pulmonology. Here, we examine the disease associations of sGC in a non-hypothesis based manner in order to identify possibly previously unrecognized clinical indications. Surprisingly, we find that sGC, is closest linked to neurological disorders, an application that has so far not been explored clinically. Indeed, when investigating the neurological indication of this cluster with the highest unmet medical need, ischemic stroke, pre-clinically we find that sGC activity is virtually absent post-stroke. Conversely, a heme-free form of sGC, apo-sGC, was now the predominant isoform suggesting it may be a mechanism-based target in stroke. Indeed, this repurposing hypothesis could be validated experimentally in vivo as specific activators of apo-sGC were directly neuroprotective, reduced infarct size and increased survival. Thus, common mechanism clusters of the diseasome allow direct drug repurposing across previously unrelated disease phenotypes redefining them in a mechanism-based manner. Specifically, our example of repurposing apo-sGC activators for ischemic stroke should be urgently validated clinically as a possible first-in-class neuroprotective therapy.
网络医学利用共同的遗传起源、标志物和共病情况来揭示疾病之间的机制联系。这些联系可以在疾病组中进行总结,疾病组是一个全面的疾病-疾病关系和聚类网络。在过去十年中,疾病组一直具有影响力,尽管其大多数联系尚未通过实验进行跟进。在这里,我们研究了与环磷酸鸟苷(cGMP)相关的一组高患病率且未满足医疗需求的疾病表型。迄今为止,核心的cGMP生成酶,可溶性鸟苷酸环化酶(sGC),在药理学上仅被靶向用于心脏病学和肺病学中的平滑肌调节。在这里,我们以非假设的方式研究sGC的疾病关联,以确定可能以前未被认识到的临床适应症。令人惊讶的是,我们发现sGC与神经疾病的联系最为紧密,而这一应用迄今为止尚未在临床上进行探索。实际上,在研究这组未满足医疗需求最高的神经疾病适应症——缺血性中风时,我们在临床前发现中风后sGC活性几乎不存在。相反,一种无血红素形式的sGC,脱辅基sGC,现在是主要的异构体,这表明它可能是中风中基于机制的靶点。事实上,这一重新利用药物的假设可以在体内通过实验得到验证,因为脱辅基sGC的特异性激活剂具有直接的神经保护作用,可减小梗死面积并提高存活率。因此,疾病组的共同机制聚类允许直接将药物重新用于以前不相关的疾病表型,以基于机制的方式对它们进行重新定义。具体而言,我们将脱辅基sGC激活剂重新用于缺血性中风的例子应作为一种可能的同类首创神经保护疗法,迫切在临床上进行验证。