Metabolic analysis as a driver for discovery, diagnosis, and therapy

被引：106

作者：

DeBerardinis, Ralph J. ^{[1
,2
]}

Keshari, Kayvan R. ^{[3
,4
]}

机构：

[1] Univ Texas Southwestern Med Ctr Dallas, Howard Hughes Med Inst, Dallas, TX 75390 USA

[2] Univ Texas Southwestern Med Ctr Dallas, Childrens Med Ctr Res Inst, Dallas, TX 75390 USA

[3] Mem Sloan Kettering Canc Ctr, Dept Radiol, New York, NY 10065 USA

[4] Mem Sloan Kettering Canc Ctr, Mol Pharmacol Program, New York, NY 10065 USA

来源：

CELL | 2022年 / 185卷 / 15期

关键词：

MAGNETIC-RESONANCE-SPECTROSCOPY; GLUTAMINE POOL SIZE; ABSOLUTE QUANTIFICATION; TREATMENT RESPONSE; GENETIC-VARIATION; BREAST-CANCER; REVEALS; PATHWAY; CELLS; 2-HYDROXYGLUTARATE;

D O I：

10.1016/j.cell.2022.06.029

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Metabolic anomalies contribute to tissue dysfunction. Current metabolism research spans from organelles to populations, and new technologies can accommodate investigation across these scales. Here, we review recent advancements in metabolic analysis, including small-scale metabolomics techniques amenable to organelles and rare cell types, functional screening to explore how cells respond to metabolic stress, and imaging approaches to non-invasively assess metabolic perturbations in diseases. We discuss how meta-bolomics provides an informative phenotypic dimension that complements genomic analysis in Mendelian and non-Mendelian disorders. We also outline pressing challenges and how addressing them may further clarify the biochemical basis of human disease.

引用

页码：2678 / 2689

页数：12

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