Scientists Identify a New Genetic Mutation Associated with Tourette Disorder

The Physicians Committee
DONATE
 
BREAKING RESEARCH NEWS October 20, 2017

Scientists Identify a New Genetic Mutation Associated with Tourette Disorder

October 20, 2017

tourette syndrome

Image Source

Study in a Sentence: By sequencing all the genes of affected and unaffected members of a three-generation family with Tourette or Tic Disorder (a condition characterized by uncontrolled repetitive movements or sounds), scientists linked the disease to a loss-of-function mutation in the gene PNKD, a protein that plays a role in the connections between brain cells and has been associated with other movement disorders. The scientists confirmed the loss of the protein’s function in the affected patients using stem-cell-derived brain cells made from the patient’s blood cells.

Healthy for Humans: This study identifies a possible new genetic cause for an inherited disease, which may help doctors screen for other people or families at risk for passing on the disease to their descendants.

Redefining Research: The research methods in this study are examples of human-based approaches to identify genetic causes in human diseases and understand the molecular mechanisms using stem-cell-derived cellular models. The approach is not only faster and more cost-effective than using animal models, it also yield more human-relevant results to inform human disease diagnostics.

Sun N, Nasello C, Deng L, et al. The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family. Mol Psychiatry. Published online September 12, 2017. doi: 10.1038/mp.2017.179.

Subscribe to the Physicians Committee’s Breaking Research News.

Breaking Research News is a service of the Physicians Committee for Responsible Medicine, 5100 Wisconsin Ave., Ste. 400, Washington, DC 20016, 202-686-2210. Join the Physicians Committee and receive the quarterly magazine, Good Medicine.

Breaking Research News Topics:
Breaking Research News Archive:
2017 (38)
2016 (53)
2015 (53)
2014 (18)