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Large-scale study maps how genetics and development shape children's blood proteins. Data can be accessed on the new web portal proteomevariation.org.
Blood proteins serve as crucial indicators of health and disease risk throughout development. Now, researchers at the University of Copenhagen and the Max Planck Institute of Biochemistry revealed how these proteins are regulated during childhood and adolescence, providing a vital foundation for understanding disease mechanisms and developing better diagnostic tools.
A study of over 3,000 children and adolescents in Denmark has revealed how blood protein levels change by genetic variants and during pediatric development. The research was led by Professor Matthias Mann at the Max Planck Institute of Biochemistry and Novo Nordisk Foundation Center for Protein Research, together with Professors Torben Hansen and Simon Rasmussen at University of Copenhagen. Their findings, published in Nature Genetics, establish a foundation for understanding how protein changes signal health and disease risk during childhood.
Using advanced mass spectrometry technology, the researchers measured over 1,200 different proteins in blood samples from more than 2,100 children and adolescents aged 5-20 years. They discovered that the levels of 70% of these proteins were influenced by factors including age, sex, body mass index, and genetics. "Plasma protein levels are influenced by various factors, but the degree of their influence varies from protein to protein. By breaking down the sources of variation, we found that some proteins are primarily driven by genetics, while others are more affected by other factors such as age or obesity. This helps explain why children develop differently and why some are more susceptible to certain diseases than others." explains Dr. Lili Niu, first author of the study.
The researchers uncovered striking differences in how proteins change during male and female puberty. "These sex-specific protein trajectories could help explain differences in development and disease susceptibility between males and females," says Professor Torben Hansen from the University of Copenhagen.
The study found that genes control the levels of one-third of blood proteins, with some genetic variants causing up to 30-fold differences between individuals. These findings were highly reproducible, replicated in 1,000 children and 558 adults, confirming their persistence into adulthood.
Using advanced statistical methods, the team identified 41 genes that likely cause changes in 33 traits related to heart disease and metabolism. Professor Simon Rasmussen from University of Copenhagen explains: “By connecting genes to proteins to disease our findings open new avenues for understanding disease mechanisms and identifying new drug targets.”
To help researchers worldwide use these findings, the team created an interactive web portal at proteomevariation.org where scientists can explore how specific proteins change during childhood.
"This study demonstrates how mass spectrometry-based proteomics is emerging as a powerful tool for large-scale population studies," concludes Matthias Mann. " Using just a small drop of blood, we can now measure thousands of proteins with unprecedented precision, opening new possibilities for understanding disease mechanisms and discovering biomarkers that could signal disease risk early in life."
This comprehensive map of protein changes during childhood advances efforts to integrate proteomics into precision medicine. The researchers are now investigating whether these protein patterns could help doctors predict which children might develop certain diseases, and which treatments would work best for them.
Glossary
Mass spectrometry: is an analytical technique that separates and measures ions according to their mass-to-charge ratio to identify and quantify chemical substances or molecules. It is a cornerstone technology in proteomics, enabling the identification and quantification of thousands of proteins in complex biological samples.
Omics technology: is a collective term for a group of methods in biotechnology and biology that enable the global analysis of biomolecules in biological systems. The methodology has the potential to show the overall context of biological systems. Common “omics” technologies are: Genomics: examines the entire genome, i.e., the entirety of DNA in a cell; Transcriptomics: analyzes the entire set of RNA molecules produced in a cell. Proteomics: examines the entire set of proteins produced by a cell or organism. Metabolomics: the study of all the metabolites in a cell and epigenomics: the study of all the epigenetic modifications in a genetic material.
Protein content or protein level: The protein content or level in cells refers to the quantity and diversity of proteins present in a cell. Proteins are essential components of every living cell and perform numerous important functions. They serve as structural elements, possess enzymatic activity, function in transport or storage, and are needed for signal transduction and immune defense. The protein content is dynamic and constantly regulated, providing insight into the state and activity of the cell.
Proteome: comprises the totality of all proteins in a living organism, a tissue or a cell at a specific point in time. The proteome is highly dynamic and reacts to the requirements of the cell, as well as to diseases or environmental influences.
Proteomics: is the study of the proteome.
Prof. Dr. Matthias Mann
Department of Proteomics and Signal Transduction
Max Planck Institute of Biochemistry
Am Klopferspitz 18
82152 Martinsried/Planegg
Germany
E-Mail: mmann@biochem.mpg.de
http://www.biochem.mpg.de/mann
Lili Niu, Sara Elizabeth Stinson, Louise Aas Holm, Morten Asp Vonsild Lund, Cilius Esmann Fonvig, Leonardo Cobuccio, Jonas Meisner, Helene Bæk Juel, Joao Fadista, Maja Thiele, Aleksander Krag, Jens-Christian Holm, Simon Rasmussen, Torben Hansen & Matthias Mann: Plasma proteome variation and its genetic determinants in children and adolescents, Nature Genetics, February 2025
DOI: https://dx.doi.org/10.1038/s41588-025-02089-2
https://www.biochem.mpg.de/en/mann-press - further press releases from the department of Proteomics and Signal Transduction
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