Sestrin 3 gene regulates convulsions in epilepsy

MRI brain scan that shows the temporal lobe. An analysis of 129 people with temporal lobe epilepsy and found that genetic control of convulsions was due to a single gene, Sestrin 3 (SESN3)

Epilepsy has a strong genetic component and susceptibility to the disease is influenced by hundreds of genes. Now, researchers have used a ‘systems genetics’ approach to determine how these genes work together to cause epilepsy[1]
.

The team analysed hippocampal brain tissue samples from 129 people with temporal lobe epilepsy and found that genetic control of convulsions was due to a single gene, Sestrin 3 (SESN3). Furthermore, in a zebrafish model of epilepsy, knockdown of this gene led to attenuated seizures and reduced expression of proconvulsive molecules.

The study provides the first evidence of a function for SESN3 in disorders of the human brain and offers hope that disease-modifying therapies can be developed for epilepsy, write the researchers in Nature Communications.

 

References

[1] Johnson MR, Behmoaras J, Bottolo L et al. Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus. Nature Communications 2015; 6:6031. doi: 10.1038/ncomms7031.

Last updated
Citation
The Pharmaceutical Journal, PJ, 7 February 2015, Vol 294, No 7848;294(7848):DOI:10.1211/PJ.2015.20067753