The prickle homolog 1 (PRICKLE1) gene encodes a protein known as 'PRIC1', which is found in large amounts in the brains of unborn babies. Its functions have not been fully established, but it appears to play a role in the outgrowth of axons and dendrons from neurons. PRICKLE1 has never previously been associated with any human disease, but has recently been linked to progressive myoclonus epilepsy (PME), a rare form of the condition that can also cause imbalance and dementia.

Scientists from Iowa, USA and Melbourne, Australia, collaborated in a DNA study of 47 individuals from nine families. Each family came from one of three family lines, and all lived in the Middle East. 23 of the 47 participants had PME accompanied by imbalance. The team in Iowa analyzed one family line, whilst the researchers Melbourne studied the remaining two family lines.

When they pooled their findings, the teams found that the individuals who had PME possessed a common mutation in the PRICKLE1 gene.

In order to confirm that the mutation of PRICKLE1 was definitely related to the PME (and not coincidental); the researchers in Iowa designed an experiment to test the human mutation in a zebrafish model. They noticed that the mutated PRICKLE1 did not behave normally.

The group is now developing other animal models to investigate how exactly PRICKLE1 is involved in the development of epilepsy. They are also trying to find out if a PRICKLE1 mutation is associated with other forms of epilepsy. If this is found to be the case, new drugs that counteract the effects of the mutation could be developed in the future.

Click here for further information