Investigation of mutation in cystatin B gene in patients affected by idiopathic generalized epilepsy in Chaharmahal and Bakhtiari province

Cystatin B gene encodes a protein that inhibits proteolytic activity of cathepsin enzymes. Mutation in this gene has been stated as one of the causes of idiopathic generalized epilepsy. This study aimed at screening the cstB gene mutations in 35 patients affected by idiopathic generalized epilepsy in the Chaharmahal and Bakhtiari province.

In this descriptive-lab study، the researchers examined mutations in exons 1 to 3 and uncovered the cstB gene promoter region in 35 patients with Idiopathic Generalized Epilepsy. Using standard phenol-chloroform procedure. The researchers extracted DNA and then they utilized PCR-SSCP analysis for screening mutations in this gene. Finally suspected cases were sequenced.

In one of the samples، point mutation c. 48C> T was found which was unknown. Investigating the bioinformatic examinations on this sample، it can be concluded that this shift has been occurred in the cstB gene intronic region.

The results obtained from the samples of this study reveales that there is a slight relationship between idiopathic generalized epilepsy and the cstB gene mutations.