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Integrative omics approaches provide biological and clinical insights: examples from mitochondrial diseases.
The Journal of Clinical Investigation ( IF 15.9 ) Pub Date : 2020-01-02 , DOI: 10.1172/jci129202
Sofia Khan 1 , Gulayse Ince-Dunn 2 , Anu Suomalainen 2, 3, 4 , Laura L Elo 1
Affiliation  

High-throughput technologies for genomics, transcriptomics, proteomics, and metabolomics, and integrative analysis of these data, enable new, systems-level insights into disease pathogenesis. Mitochondrial diseases are an excellent target for hypothesis-generating omics approaches, as the disease group is mechanistically exceptionally complex. Although the genetic background in mitochondrial diseases is in either the nuclear or the mitochondrial genome, the typical downstream effect is dysfunction of the mitochondrial respiratory chain. However, the clinical manifestations show unprecedented variability, including either systemic or tissue-specific effects across multiple organ systems, with mild to severe symptoms, and occurring at any age. So far, the omics approaches have provided mechanistic understanding of tissue-specificity and potential treatment options for mitochondrial diseases, such as metabolome remodeling. However, no curative treatments exist, suggesting that novel approaches are needed. In this Review, we discuss omics approaches and discoveries with the potential to elucidate mechanisms of and therapies for mitochondrial diseases.

中文翻译:

综合组学方法提供生物学和临床见解:线粒体疾病的例子。

基因组学、转录组学、蛋白质组学和代谢组学的高通量技术以及对这些数据的综合分析,可以对疾病发病机制提供新的系统级见解。线粒体疾病是假设生成组学方法的绝佳目标,因为该疾病组在机制上异常复杂。尽管线粒体疾病的遗传背景是在核基因组或线粒体基因组中,但典型的下游影响是线粒体呼吸链功能障碍。然而,临床表现显示出前所未有的变异性,包括跨多个器官系统的全身或组织特异性影响,症状从轻度到重度,并且发生在任何年龄。到目前为止,组学方法已经提供了对组织特异性的机制理解和线粒体疾病的潜在治疗选择,例如代谢组重塑。然而,不存在治愈方法,这表明需要新的方法。在这篇综述中,我们讨论了有可能阐明线粒体疾病机制和治疗方法的组学方法和发现。
更新日期:2020-01-04
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