The presence of M129V of PRNP gene influences mild temporal lobe epilepsy in women

We investigated whether or not the PRNP gene is a susceptibility gene in patients with temporal lobe mild epilepsy. We systematically screened the entire open reading frame of the PRNP gene and evaluated the genetic contribution of the functional PRNP M129V polymorphism in 289 patients with mild TLE compared to a neurologically unaffected age and sex matched control group (n = 272). Statistical analysis revealed a moderate difference in the distribution at codon 129 of the PRNP gene between sporadic mild TLE patients and healthy controls. Although, there was not any statistically significant difference in the genotype distribution within the study groups, a further analysis showed that the 129V allele was highly represented only in women with TLE compared to control group (p = 0.006). These findings further support the hypothesis that the common methionine/valine polymorphism at codon 129 of the PRNP gene may modify the susceptibility to mild TLE only in women.