The presence of several mutations in four important genes for the brain’s synapses can be associated to Obsessive Compulsive Disorder in humans. This is revealed through a study that included almost 600 patients and an about equal number of healthy controls. The investigations were led by Kerstin Lindblad-Toh (Uppsala University/SciLifeLab) in collaboration with a research team at Broad Institute, USA, and the results are published in Nature Communications. 

More than 80 million people worldwide suffers from Obsessive Compulsive Disorder (OCD). The condition entails that a person repeats certain normal behaviours often, to the degree that it creates difficulties in everyday life. Previous genetic studies in dogs, which can also develop OCD, have identified mutations that lead to alterations in the function of brain synapses – the points of contact between cells conveying nerve signals.

The present study sequenced around 600 genes, selected based on earlier research on OCD in dogs, mice and humans or knowledge about other psychiatric conditions. It turns out that the genes connected to OCD in dogs also display a larger number of mutations in humans with an OCD diagnosis.

The research team has identified four genes that have not previously been associated to OCD: NRXN1, HTR2A, CTTNBP2 and REEP3 – all which are believed to affect the synapses in striatum, a region of the barin where e.g. planning of movements is carried out.

Read a press release from Uppsala University (in Swedish)

Read the full paper in Nature Communications