Mouse study identifies new diabetes genes

February 9, 2018 – CAMBRIDGE. Researchers at the European Bioinformatics Institute (EMBL-EBI), with colleagues at the Helmholtz Center Munich and the International Mouse Phenotyping Consortium (IMPC), have identified hundreds of genes that could play an important role in the development of metabolic diseases such as diabetes. Published in Nature Communications, the study identified novel links to metabolic traits for 429 genes in mice, and showed that 23 of these genes may play a role in human diabetes.


Studying the biology of mice is incredibly useful for understanding disease in animals with similar genetics – for example, humans. The IMPC is a publicly funded initiative that aims to generate major efficiencies in research. It is doing this by systematically determining the function of every gene in the mouse genome, and making the data freely available to everyone. IMPC researchers create computational models of disease in the mouse that anyone can use to explore how diseases arise and develop in humans.

What they did

In this study, the team of researchers used computational models of mice to identify genes that are implicated in metabolic disease. They compared their results with genome data collected from human patients.

“We analysed phenotypic data from over 2000 knock-out mice generated by the IMPC,” explains Terry Meehan, IMPC Project Coordinator at EMBL-EBI. “These are mice that have had a gene “turned off”. By measuring physiological activities in these mice, we can see what biological systems are affected when a specific gene is not functioning. This gives us clues about how genetics is linked to disease, both in mice and humans.”

What they found

The team identified hundreds of genes associated with metabolism in mice. In 51 of them, the link with disease had been completely unknown to scientists.

“The exciting thing is that we were able to use the human data collected by our partners in Munich to pinpoint 23 genes that appear to be linked to diabetes in humans,” adds Meehan.

“Our analysis of the phenotyping data identified 974 genes whose loss has strong effects on glucose and lipid metabolism,” says lead author Hrabě de Angelis, Chair of Experimental Genetics at the Technical University of Munich. “For more than a third of these genes, no connection to metabolism was known previously.”

Why does it matter?

Genes are important drivers of disease, but we still don’t know which ones play an important role in human disease. It is only by deciphering cause and effect – the causal genetic links – that researchers can understand how diseases arise, develop therapeutic interventions or even prevent an outbreak.

The newly identified diabetes genes discovered in this study could be used as biomarkers for predicting the risk of diabetes in an individual, early diagnosis of the disease, or personalised approaches for treatment.

Source: EMBL-EBI

ROZMAN, J., et al. (2018). Identification of novel genetic elements in metabolism by high-throughput mouse phenotyping. Nature Communications (in press). Published online 18 January; DOI: 10.1038/s41467-017-01995-2