Summary of Study ST002400

This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, where it has been assigned Project ID PR001546. The data can be accessed directly via it's Project DOI: 10.21228/M8VM64 This work is supported by NIH grant, U2C- DK119886.

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This study contains a large results data set and is not available in the mwTab file. It is only available for download via FTP as data file(s) here.

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Study IDST002400
Study TitleAlcohol dehydrogenase 1B is crucial for adipocyte homeostasis
Study SummaryBackground. Alcohol dehydrogenase (ADH1B), encoded by the ADH1B gene, is a cytosolic enzyme mainly known for its role in ethanol catabolism in the liver. A few studies have paved the way to show an equally important role of ADH1B in adipocytes. This study aimed to better identify the cellular mechanisms and signaling pathways involving ADH1B in adipose tissue and to determine if ADH1B variants might contribute to adipose tissue dysfunction. Results. We showed that CRISPR-Cas9-mediated ADH1B knockout (KO) in human adipose stem cells (ASC) abolished adipocyte differentiation and decreased insulin response. This was accompanied by oxidative stress, altered mitochondrial functions, and cellular senescence. Lipidomic analysis revealed that ADH1B deficiency results in a major remodeling of lipid composition in ASC. An ADH1B homozygous loss-of-function variant was also identified in a patient presenting with a lipodystrophic and insulin resistant syndrome associated with major liver dysfunction, leading to early death. Discussion. This translational study underlines the crucial role of ADH1B in adipose tissue. It unveils cellular mechanisms accounting for its key role in adipogenesis, and adipocyte homeostasis. This study also identifies ADH1B as a candidate gene in monogenic forms of lipodystrophic and insulin resistant syndromes.
Institute
INSERM
Last NameGautheron
First NameJérémie
Address27 rue Chaligny
Emailjeremie.gautheron@gmail.com
Phone+33623398373
Submit Date2022-12-13
Raw Data AvailableYes
Raw Data File Type(s)wiff
Analysis Type DetailLC-MS
Release Date2022-12-28
Release Version1
Jérémie Gautheron Jérémie Gautheron
https://dx.doi.org/10.21228/M8VM64
ftp://www.metabolomicsworkbench.org/Studies/ application/zip

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Subject:

Subject ID:SU002489
Subject Type:Cultured cells
Subject Species:Homo sapiens
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