2018, January

New genes and regulatory elements discovered that can lead to metabolic disorders

An international team of researchers led by Prof. Martin Hrabě de Angelis has identified a network of genes that can play an important role in the development of metabolic diseases.

The development of metabolic diseases like diabetes is a complex process. The underlying genetic factors and their relevance to metabolic disease remain incompletely understood. Genome-wide research is needed to characterize so-far unannotated mammalian metabolic genes. In order to find out which genes are involved in metabolic processes, the researchers investigated the metabolic functions of mouse models, each of which lacked a precisely selected gene. The work was carried out within the framework of the International Mouse Phenotyping Consortium (IMPC). Using this method, researchers are trying to establish whether the missing gene is involved in important metabolic processes and can be linked to human diseases.

"Our analysis of the phenotyping data has identified a total of 974 genes whose loss has strong effects on glucose and lipid metabolism," said Hrabě de Angelis, Board of German Center for Diabetes Research (DZD) and Director of the Institute for Experimental Genetics (IEG) at the Helmholtz Zentrum München and the chair of the same name at the TU Munich. In 429 genes, no correlation with the metabolism has been known so far. 51 of the found metabolic genes were completely unknown.

When compared with genome data collected in humans, they found that 23 of these also appear to play a role in human diabetes. There is no data for the rest.

The research team also discovered a new regulatory code: Many candidate genes had common regulatory elements in promotors. The scientists therefore assume that these genes are a network.

The work published in' Nature Communications' was produced under the leadership of a team from the Helmholtz Zentrum München and the DZD. 

International research team discovered new genes associated with metabolic diseases.