Salomonis Nathan
Department of Pediatrics, Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center Research Foundation, Cincinnati, Ohio.
Pediatr Res. 2014 Sep;76(3):220-9. doi: 10.1038/pr.2014.90. Epub 2014 Jun 25.
Sudden infant death syndrome (SIDS) remains one of the primary causes of infant mortality in developed countries. Although the causes of SIDS remain largely inconclusive, some of the most informative associations implicate molecular, genetic, anatomical, physiological, and environmental (i.e., infant sleep) factors. Thus, a comprehensive and evolving systems-level model is required to understand SIDS susceptibility. Such models, by being powerful enough to uncover indirect associations, could be used to expand our list of candidate targets for in-depth analysis. We present an integrated WikiPathways model for SIDS susceptibility that includes associated cell systems, signaling pathways, genetics, and animal phenotypes. Experimental and literature-based gene-regulatory data have been integrated into this model to identify intersecting upstream control elements and associated interactions. To expand this pathway model, we performed a comprehensive analysis of existing proteomics data from brainstem samples of infants with SIDS. From this analysis, we discovered changes in the expression of several proteins linked to known SIDS pathologies, including factors involved in glial cell production, hypoxia regulation, and synaptic vesicle release, in addition to interactions with annotated SIDS markers. Our results highlight new targets for further consideration that further enrich this pathway model, which, over time, can improve as a wiki-based, community curation project.
婴儿猝死综合征(SIDS)仍然是发达国家婴儿死亡的主要原因之一。尽管SIDS的病因在很大程度上尚无定论,但一些最具参考价值的关联涉及分子、遗传、解剖、生理和环境(即婴儿睡眠)因素。因此,需要一个全面且不断发展的系统层面模型来理解SIDS易感性。这样的模型由于强大到足以揭示间接关联,可用于扩充深入分析的候选靶点列表。我们提出了一个针对SIDS易感性的整合WikiPathways模型,其中包括相关的细胞系统、信号通路、遗传学和动物表型。基于实验和文献的基因调控数据已整合到该模型中,以识别相交的上游控制元件和相关相互作用。为了扩展这个通路模型,我们对来自SIDS婴儿脑干样本的现有蛋白质组学数据进行了全面分析。通过该分析,我们发现了几种与已知SIDS病理相关的蛋白质表达变化,包括参与神经胶质细胞生成、缺氧调节和突触小泡释放的因子,以及与注释的SIDS标记的相互作用。我们的结果突出了新的需进一步考虑的靶点,这些靶点进一步丰富了该通路模型,随着时间的推移,该模型可作为一个基于维基的社区管理项目不断完善。