Genetic alterations are associated with Tourette disorder


There are structural alterations in the DNA that can be associated with Tourette disorder. This is shown in a recent study by researchers from e.g. IGP, in which DNA from 802 families was analysed. The alterations comprise larger areas in the DNA and are more common in individuals with Tourette disorder than in healthy people, independently of whether the disorder has been inherited or not.

Tourette disorder is a neurodevelopmental disorder characterised by a combination of tics. These can be motor tics such as repeated movements, and vocal tics, for instance throat clearing that later develops to involuntary sounds or words.

Uppsala University researchers Niklas Dahl and Najah Khalifa have in collaboration with mainly American researchers identified genetic alterations that are associated with Tourette disorder. In total 483 risk genes for Tourette disorder were identified in the study, where families with both inherited and sporadic cases were analysed.

One of the “high-risk genes” identified for Tourette disorder is called CELSR3. Its role, together with other risk genes, is in cell polarity. One hypothesis is therefore that Tourette disorder can be caused by some nerve cells not positioning themselves normally during the brain’s development and maturation.

The study has been published in the scientific journal Cell Reports.

Mer information:
Uppsala University web news (in Swedish)
Paper in Cell Reports
Niklas Dahl’s research