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Updated: May 4, 2026
11:02
Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics
Published on: November 29, 2024
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Integrated genomics and metabolomics in nephrology
Dorothee Atzler1, Edzard Schwedhelm1, Tanja Zeller2
1Department of Clinical Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany German Center for Cardiovascular Research (DZHK), Partner Side Hamburg/Lübeck/Kiel.
Summary
Omics approaches, including genomics and metabolomics, identify novel genetic loci and metabolites linked to chronic kidney disease (CKD). These findings highlight potential therapeutic targets for kidney disease progression.
Area of Science:
- Nephrology
- Genetics
- Metabolomics
Background:
- Renal pathophysiology is increasingly understood through 'omics' research.
- Genome-wide association studies (GWAS) and metabolome analyses have identified genes and metabolites linked to kidney function.
- Chronic kidney disease (CKD) research benefits from large-scale data analysis.
Purpose of the Study:
- To review recent advancements in clinical kidney disease research.
- To focus on the application of genomics and metabolomics in understanding CKD.
- To highlight novel genetic loci and metabolites associated with renal pathophysiology.
Main Methods:
- Meta-analyses of genome-wide association studies (GWAS) from large cohorts.
- Metabolome analyses using mass spectrometry and nuclear magnetic resonance spectroscopy.
- Analysis of targeted and non-targeted metabolites in plasma, serum, and urine.
Main Results:
- Several novel genetic loci associated with estimated glomerular filtration rate and CKD were discovered.
- Uremic toxins, including arginine derivatives (e.g., asymmetric dimethylarginine) and tryptophan metabolites, were found to be elevated in CKD.
- These metabolites show promise as targets for intervening in kidney disease progression.
Conclusions:
- 'Omics' approaches provide powerful insights into the genetic and metabolic underpinnings of kidney diseases.
- Genomics and metabolomics have identified key biomarkers and potential therapeutic targets for CKD.
- Continued research in this area is crucial for advancing the understanding and treatment of kidney disease.
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