Genetic defect causes diabetes and degeneration of the nervous system

02.12.2014 17:47

The metabolic disorder diabetes mellitus and degenerative diseases of the nervous system can have one and the same cause. Neuroscientists from Tübingen discovered this together with colleagues from the Helmholtz Center Munich as part of a genetic research project. In two families, they identified a genetic defect that leads to a deficiency of an important protein. It is important for the correct folding of proteins and the breakdown of misfolded proteins in the cells of the pancreas and brain. The researchers present their results in the scientific journal 'American Journal of Human Genetics'. In the future, the rare genetic defect will serve as an important model for research into the common causes of diabetes and neurodegeneration.

When several children in a family develop diseases that normally only appear at an older age, genetics experts take notice - especially if the parents are related by blood. In this case, it is suspected that the illnesses are the result of a hereditary disease. The teams led by Professor Ludger Schöls from the Hertie Institute for Clinical Brain Research at the University of Tübingen and the German Center for Neurodegenerative Diseases and Dr. Holger Prokisch from the Helmholtz Center Munich and the German Center for Diabetes Research (DZD) learned of a family in which three out of four children suffered from early-onset diabetes. All three had also been hearing impaired since their early years. They also suffered from gait disorders and problems with goal-directed movements, called ataxia.

Genetic defect causes diabetes and degeneration of the nervous system

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