Jeremy Willsey and Coauthors Publish New Study on Role of De Novo Mutations in Tourette Disorder

New Tourette disorder genes come to light

By Michele Solis (UCSF News)

In the largest DNA sequencing study of Tourette Disorder (TD) to date, UC San Francisco researchers and their collaborators have unearthed new data suggesting a potential role for disruptions in cell polarity in the development of this condition. 

In their new study, published online September 25, 2018 in Cell Reports the researchers focused on “de novo” mutations, or rare mutations that arise anew at conception, rather than being inherited from parents. They observed that these mutations tend to affect genes with a role in cell “polarity,” which is the process by which cells differentiate “top” and “bottom.” This is particularly important in the brain, where neurons must form with specialized information gathering and transmitting sides to function properly.

Image: Graphical abstract from Wang et al., Cell Reports 24, P3441–3454.E12, 2018.

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