Supervisors info:
Δρακούλης Νικόλαος Καθηγητής Τμήμα Φαρμακευτικής ΕΚΠΑ,
Ανδρεάδου Ιωάννα Καθηγήτρια Τμήμα Φαρμακευτικής ΕΚΠΑ,
Παπαπετρόπουλος Ανδρέας Καθηγητής Τμήμα Φαρμακευτικής ΕΚΠΑ
Summary:
Epilepsy, a prevalent neurological disorder with a substantial genetic component,
affects over 50 million individuals worldwide. The methylenetetrahydrofolate
reductase (MTHFR) enzyme, essential in homocysteine metabolism and influencing
diverse biological processes, has been implicated in regulating cellular functions.
Notably, MTHFR gene mutations, specifically C677T and A1298C, have been reported
to reduce enzyme activity. Previous studies suggested a potential correlation
between decreased MTHFR activity and epilepsy susceptibility.
In this study, blood samples from 214 patients with generalized and/or focal epilepsy
were collected and subjected to DNA isolation and genotyping for MTHFR C677T and
A1298C polymorphisms using the KASP assay. Results were compared with a control
group of 1411 individuals. Statistical analysis, employing the chi-square test via
MedCalc software, revealed no strong correlation between MTHFR polymorphisms
and epilepsy susceptibility overall.
However, intriguingly, an analysis of MTHFR C677T polymorphism indicated a
potential association with early-onset epilepsy, particularly in patients aged 0-5
years. The T allele exhibited higher frequency in this subgroup compared to the
control group (30% vs. 18%, OR=2.5, p-value=0.02). However, AA genotype has a
tendency to appear more frequently in this specific subgroup. (60% vs 44,7%, OR=2,
p-value=0.1)
There is also one more statistically significant correlation between Α1298C
polymorphism and early-onset epilepsy in patients added 0-5 years. ΑΑ genotype
appears to be almost 2 times more frequent in epilepsy patients comparing with
control group. (60% vs 4%, OR=1.85, p-value=0.1).
This study suggests that, on a general scale, MTHFR polymorphisms may not
significantly impact epilepsy susceptibility. Nevertheless, the observed association
with early-onset epilepsy warrants further investigation. Future research could
elucidate the specific role of the MTHFR C677T polymorphism in this subgroup,
providing valuable insights into the genetic underpinnings of early-onset epilepsy.
Keywords:
Epilepsy, Pharmacogenomic, MTHFR, Anti-Epileptic treatment, Anti-epileptic drugs, Personalised medicine
