Mice as helpers in elucidating the basis of neuropsychiatric and neurodegenerative diseases

From gene mutation to disease mechanism

Patients with neuropsychiatric disorders suffer from symptoms such as impaired cognitive performance, seizures, stereotypical behavior and difficulties with social interaction. The causes of the disorder are often unclear, but with the current possibilities of genome sequencing, patient-specific changes in specific genes can increasingly be found. So how do you determine whether a change in a specific gene is really the cause of the disease? Genetically modified mouse models help here. For example, mutations in the ITSN1 gene are suspected of causing neuropsychiatric disorders. The Nanophysiology working group is researching mice in which both ITSN genes present in mammals have been switched off. It has been found that these mice also exhibit neuropsychiatric symptoms, such as highly stereotyped repetitive behavior. This suggests that it is actually the mutation in ITSN1 that triggers the disease symptoms in the affected patients. The mouse model also offers the opportunity to investigate what exactly goes wrong in the brain in the absence of ITSN1. This knowledge, which is provided by basic animal research, creates the basis for finding therapeutic approaches that can help patients with ITSN1 mutations in the future.

 

Here you will also find a video from 2016 on an earlier research project by Prof. Maritzen, which was recorded as part of the "Understanding animal experiments" initiative.