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Researchers investigate the link between a risk gene for psychiatric diseases and the brain's immune defence

Post doc researcher Susanne Michels from Professor Tarja Malm’s research group at the University of Eastern Finland has received a funding of nearly 200,000 euros for a research project examining how mutations in the CACNA1C gene, which has been linked to psychiatric disorders and autism, may affect microglia cells responsible for the brain’s immune defence.

The Psy-hiPSC microglia – Functional impact of the psychiatric risk gene CACNA1C in human iPSC-derived microglia project was granted Horizon Europe MSCA Postdoctoral Fellowships funding enabling international researcher mobility.

The underlying pathophysiology of psychiatric disorders such as major depression, bipolar disorder, schizophrenia, as well as autism, is still largely unknown. However, mutations in the CACNA1C gene have been associated with all these disorders. A specific mutation of this gene causes a multiorgan phenotype including severe cardiac arrhythmias, immune deficiency, cognitive abnormalities, and autism, named Timothy syndrome. In addition, immune alterations involving brain microglia cells have also been reported for psychiatric disorders.

The research project will investigate the functional impact of the main psychiatric disease-related CACNA1C gene mutations on microglia cells. Using CRISPR editing, these mutations will be introduced into human iPSC control cell lines, which are then differentiated into microglia cells. They will undergo a systematic functional characterization, and their effects on neuronal activity and function will also be assessed.

The study is expected to shed light on the role microglia cells play in CACNA1C-associated disorders.

For further information, please contact:

Post doc researcher Susanne Michels, susanne.michels(a)

Professor Tarja Malm, tarja.malm(a), 040 355 2209,