School of Chemical and Biomolecular Engineering, Georgia Tech, Atlanta, GA 30332, USA.
Department of Biomedical Engineering, Georgia Tech, Atlanta, GA 30332, USA.
Biochim Biophys Acta Mol Basis Dis. 2018 Jun;1864(6 Pt B):2329-2340. doi: 10.1016/j.bbadis.2017.10.023. Epub 2017 Oct 22.
Disease represents a specific case of malfunctioning within a complex system. Whereas it is often feasible to observe and possibly treat the symptoms of a disease, it is much more challenging to identify and characterize its molecular root causes. Even in infectious diseases that are caused by a known parasite, it is often impossible to pinpoint exactly which molecular profiles of components or processes are directly or indirectly altered. However, a deep understanding of such profiles is a prerequisite for rational, efficacious treatments. Modern omics methodologies are permitting large-scale scans of some molecular profiles, but these scans often yield results that are not intuitive and difficult to interpret. For instance, the comparison of healthy and diseased transcriptome profiles may point to certain sets of involved genes, but a host of post-transcriptional processes and regulatory mechanisms renders predictions regarding metabolic or physiological consequences of the observed changes in gene expression unreliable. Here we present proof of concept that dynamic models of metabolic pathway systems may offer a tool for interpreting transcriptomic profiles measured during disease. We illustrate this strategy with the interpretation of expression data of genes coding for enzymes associated with purine metabolism. These data were obtained during infections of rhesus macaques (Macaca mulatta) with the malaria parasite Plasmodium cynomolgi or P. coatneyi. The model-based interpretation reveals clear patterns of flux redistribution within the purine pathway that are consistent between the two malaria pathogens and are even reflected in data from humans infected with P. falciparum. This article is part of a Special Issue entitled: Accelerating Precision Medicine through Genetic and Genomic Big Data Analysis edited by Yudong Cai & Tao Huang.
疾病代表复杂系统中特定的功能失调情况。虽然通常可以观察和治疗疾病的症状,但更具挑战性的是确定和描述其分子根本原因。即使在由已知寄生虫引起的传染病中,也通常不可能准确指出哪些分子特征或过程直接或间接发生了改变。然而,对这些特征的深入了解是进行合理、有效的治疗的前提。现代组学方法允许对某些分子特征进行大规模扫描,但这些扫描通常产生的结果不直观且难以解释。例如,将健康和患病的转录组特征进行比较可能会指向某些相关基因集,但大量的转录后过程和调控机制使得对观察到的基因表达变化的代谢或生理后果的预测变得不可靠。在这里,我们提出了一个概念验证,即代谢途径系统的动态模型可能为解释疾病期间测量的转录组特征提供一种工具。我们通过解释与嘌呤代谢相关的酶编码基因的表达数据来说明这一策略。这些数据是在猕猴(Macaca mulatta)感染疟原虫 Plasmodium cynomolgi 或 P. coatneyi 期间获得的。基于模型的解释揭示了嘌呤途径中通量重新分配的清晰模式,这些模式在两种疟原虫病原体之间是一致的,甚至反映在感染疟原虫 falciparum 的人类数据中。本文是题为“通过遗传和基因组大数据分析加速精准医学”的特刊的一部分,由 Yudong Cai 和 Tao Huang 编辑。