Summary
Medical biochemistry unravels the molecular foundations of health and disease by examining small-molecule metabolism, enzyme function and cellular signalling. Metabolomics extends this enquiry by profiling hundreds to thousands of metabolites in biological samples, linking genotype, environment and phenotype. Rapid advances in mass spectrometry, nuclear magnetic resonance and computational analysis now permit high-throughput mapping of metabolic pathways, fluxes and regulatory networks. These tools reveal how metabolic rewiring underpins conditions as diverse as cancer, diabetes, inflammatory disorders and genetic syndromes. By integrating metabolite data with genomics and proteomics, researchers are developing biomarkers for early diagnosis, monitoring therapeutic response and guiding personalised interventions. This systems-level perspective is transforming disease classification, drug development and precision medicine.
Research from Nature Portfolio
Single-molecule nanopore sequencing has been harnessed to directly detect ribonucleotides misincorporated into genomic DNA. By capturing characteristic disruptions in ionic current, this method maps sites of ribonucleotide embedding with base-level resolution, opening new avenues for studying genome instability and repair pathway deficiencies in human disease. In parallel, genetic studies of liver X receptor-α (LXRα) have identified loss-of-function variants that provoke cholesterol crystallisation and inflammatory signalling in hepatocytes. Mice bearing these mutations develop hepatitis and fibrosis despite normal triglyceride levels, demonstrating that balanced LXRα activity and lipogenesis are crucial to buffer free sterols and maintain liver integrity. Complementing these findings, work in adipocytes has unveiled an IRF3–AIG1 axis by which inflammatory signalling accelerates hydrolysis of anti-inflammatory fatty acid esters of hydroxy fatty acids (FAHFAs). IRF3-driven upregulation of the hydrolase AIG1 depletes protective FAHFA pools, impairing insulin sensitivity and linking innate immunity to metabolic dysfunction.
Topic trend for the past 5 years
The graph below shows the article count in Nature Index journals for medical biochemistry and metabolomics.
* The ‘Current Index’ represents data for a 12-month rolling window, the current window is 1 May 2025 - 30 April 2026.
Technical terms
Metabolomics: Comprehensive analysis of small molecules (metabolites) in biological systems to characterise phenotypic states and pathway activity.
Ribonucleotide excision repair (RER): A DNA repair mechanism that recognises and removes embedded ribonucleotides to preserve genomic stability.
Fatty acid esters of hydroxy fatty acids (FAHFAs): Endogenous lipids with anti-inflammatory and insulin-sensitising properties, regulated by biosynthetic and hydrolase enzymes.
De novo lipogenesis (DNL): The metabolic pathway by which acetyl-CoA is converted into fatty acids, upregulated in states of hyperinsulinaemia and metabolic disease.
Ratiometric fluorescent sensor: A molecular probe whose emission ratio at two wavelengths changes quantitatively in response to a specific ion, improving live-cell imaging accuracy.
Nanopore sequencing: A single-molecule approach that detects nucleic acids by monitoring changes in ionic current as molecules translocate through a nanopore.
Liver X receptor-α (LXRα): A nuclear receptor activated by oxysterols that governs genes controlling cholesterol efflux, lipogenesis and hepatic inflammation.
Notable articles in medical biochemistry and metabolomics
- Inflammation causes insulin resistance in mice via interferon regulatory factor 3 (IRF3)-mediated reduction in FAHFA levels. Nature Communications (2024).
- Measurement of lipogenic flux by deuterium resolved mass spectrometry. Nature Communications (2021).
- Ratiometric Fluorescent Sensors Illuminate Cellular Magnesium Imbalance in a Model of Acetaminophen-Induced Liver Injury. Journal of the American Chemical Society (2023).
About these summaries
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Research
Position of Medical Biochemistry and Metabolomics in Nature Index by Count
Leading institutions
| Institution | Count | Share |
|---|---|---|
| Chinese Academy of Sciences (CAS) | 84 | 22.49 |
| Harvard University | 58 | 21.56 |
| The University of Texas Southwestern Medical Center (UT Southwestern Medical Center) | 30 | 16.02 |
| Shanghai Jiao Tong University (SJTU) | 46 | 15.12 |
| Fudan University | 36 | 14.78 |
| Zhejiang University (ZJU) | 31 | 14.45 |
| Peking University (PKU) | 47 | 12.07 |
| National Institutes of Health (NIH) | 40 | 11.76 |
| Sun Yat-sen University (SYSU) | 24 | 10.89 |
| University of California, San Diego (UC San Diego) | 30 | 10.28 |
Collaboration
Top 5 leading collaborators in Medical Biochemistry and Metabolomics
Collaborating institutions
Note: Hover over the bars to view details about each institution's Share.
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