Center for Diabetes Research

2014: New large study on a dominant Mendelian form of diabetes

Five researchers from Center for Diabetes Research have contributed in a newly published diabetes study in the prestigious journal Nature Genetics. The study shows that mutations in so-called MODY genes are more frequent than previously assumed, and that not all individuals with these mutations develop diabetes.

Njølstad, Pål
Pål R. Njølastad, professor at Clinical institute 2 and leader for Center for Diabetes Research.
Øyvind Blom

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Over a long period of time, the research group has been mapping mutations in genes that may cause a hereditary form of diabetes known as maturity-onset diabetes of the young (MODY). Carriers of these mutations commonly develop early-onset (typically between 10 and 30 years of age) diabetes that is not related to obesity and affects multiple members of the same family. Identification of these mutations is important, allowing more precise treatment and appropriate follow-up of families affected by this type of diabetes.

In this study, researchers from Bergen, together with collaborators in the United States (US), United Kingdom (UK) and Sweden, have performed the first large-scale systematic mapping of these MODY genes. Unlike earlier studies, where the focus has been on patients where hereditary diabetes were already suspected, this study included more than 4000 individuals from the general population.

The study shows that a an unexpectedly high number of individuals carry potential disease-causing variants in the seven most common MODY genes. Bioinformatic algorithms indicate that as much as 1% of the population have rare mutations in these seven genes. However, the study also shows that most individuals with these variants do not develop diabetes. The results shows that one should be careful with using gene sequencing in healthy individuals to predict future risk for diabetes development without considering family history and clinical evaluations. It is likely that this situation is also true for other hereditary diseases, and it is necessary with further research to perform better risk evaluations in individuals with potentially serious genetic changes.

The publication is a product of one out of several collaborations with the Broad Institute in Boston (USA), first initiated after professor Pål. R Njølstad spent a year here as a "visiting professor". Other than Njølstad, professors Stefan Johansson and Anders Molven, in addition to Janne Molnes and Henrik U. Irgens, have contributed to the study.