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


Authors: DeBerardinis, R. J.; Keshari, K. R.
Review Title: Metabolic analysis as a driver for discovery, diagnosis, and therapy
Abstract: 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 metabolomics 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. © 2022 The Author(s)
Keywords: positron emission tomography; metabolism; molecular imaging; magnetic resonance; genomics; metabolomics; stable isotopes
Journal Title: Cell
Volume: 185
Issue: 15
ISSN: 0092-8674
Publisher: Cell Press  
Date Published: 2022-07-21
Start Page: 2678
End Page: 2689
Language: English
DOI: 10.1016/j.cell.2022.06.029
PUBMED: 35839759
PROVIDER: scopus
DOI/URL:
Notes: Review -- Export Date: 1 August 2022 -- Source: Scopus
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