American Journal of Human Genetics piece designates PRICKLE1 gene.
An international research team led by the University of Iowa has found a new gene connected to epilepsy. While the PRICKLE1 gene mutation is specific to a rare form of epilepsy, the study results were surprising not only because PRICKLE1 had never been associated with epilepsy but also because the gene was not associated with any other human disease.
The nine families involved in the study all lived in the Middle East and came from one of three family lines. Of the 47 individuals in the three family lines, 23 had a form of progressive myoclonus epilepsy accompanied by ataxia.
One family line had been extensively described by a University of Iowa adjunct professor of pediatrics. Two other family lines had been researched by a doctor at the University of Melbourne in Australia. By sharing and analyzing data sets, the investigators realized there was a common mutation in the PRICKLE1 gene in the family members with this form of epilepsy.
To verify that the mutation might be related to epilepsy, the team next tested it in an animal model. The group used zebrafish after realizing that another University of Iowa researcher had previously identified the PRICKLE1 gene in the fish species. The collaboration revealed that the mutated PRICKLE1 gene indeed does not behave normally in zebrafish.
The team is now developing other animal models to investigate how PRICKLE1 gene is involved in epilepsy, and investigating whether PRICKLE1 mutations are also involved in the general population of patients with epilepsy.
The paper appears in the November issue of the American Journal of Human Genetics.