Summary of Study ST003766
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 PR002349. The data can be accessed directly via it's Project DOI: 10.21228/M80N9V This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
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.
| Study ID | ST003766 |
| Study Title | Hepatic bioenergetics and metabolism in mitochondrial disease: Insights from the Ndufs4 KO mouse model |
| Study Type | Multi-platform metabolomics analysis |
| Study Summary | Mitochondrial diseases, including Leigh syndrome, frequently result from complex I (CI) deficiencies and lack effective treatments. Investigating metabolic alterations in affected tissues is essential to understanding disease progression and identifying therapeutic targets. The aim of this project was to characterize the metabolic profile of Ndufs4 knockout (KO) mouse livers, a model of CI deficiency, using multi-platform metabolomics. Whole-liver extracts from Ndufs4 KO and wild-type mice were analyzed via untargeted GC-TOFMS and semi-targeted LC-MS/MS. Metabolic profiling revealed widespread disruptions, including altered glucose, amino acid, and nucleotide metabolism, as well as TCA cycle intermediates. Key findings included elevated levels of UDP-glucose and UDP-N-acetylglucosamine, indicating shifts toward anabolic pathways such as hexosamine biosynthesis and glycogen synthesis. These data highlight the potential role of metabolic reprogramming in liver adaptation to mitochondrial dysfunction and provide new directions for investigating interorgan metabolic dynamics in mitochondrial diseases. |
| Institute | North-West University |
| Department | Biochemistry |
| Laboratory | Mitochondria Research Group |
| Last Name | Louw |
| First Name | Roan |
| Address | Hoffman Street, Potchefstroom, North-West, 2520, South Africa |
| Roan.Louw@nwu.ac.za | |
| Phone | +27 18 299 4074 |
| Submit Date | 2024-12-02 |
| Raw Data Available | Yes |
| Raw Data File Type(s) | smp, d |
| Analysis Type Detail | GC-MS/LC-MS |
| Release Date | 2025-12-02 |
| Release Version | 1 |
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Sample Preparation:
| Sampleprep ID: | SP003905 |
| Sampleprep Summary: | Metabolite extraction was achieved using a modified monophasic Bligh–Dyer extraction method with a solvent ratio of 3:1:1 (methanol:water:chloroform). The water used during extraction contained internal standards. |
