Epilepsy control with carbamazepine monotherapy from a genetic perspective

Shakir Ullah,Niaz Ali

doi:10.1016/j.jns.2021.119182

Abstract

Ethnicity variation is one of the main factors that may affect drug response in clinical practice. As MTHFR gene affects different transcriptome and proteome which affect the clinical response of drugs. Purpose of the current study was to observe possible variations in plasma levels of carbamazepine monotherapy and seizures' control in Pakhtun population of Khyber Pakhtunkhwa (KP) in the context of MTHFR (C677T and A1298C) gene polymorphisms.

Highlights

Ethnicity variation is one of the main factors that may affect drug response in clinical practice
We have recently observed that heterozygous variant (677CT and 1298 AC) of Methylene tetra hydrofolate reductase (MTHFR) gene frequently experienced low level of vitamin B6, which helps in synthesis of GABA, inhibitory neurotransmitters in carbamazepine treated patients
The current work is carried to correlate the clinical prognosis in heterozygous variant of MTHFR gene and GABRG2 gene, which are deficient in vitamin B6 as per our recently published work [14]

Summary

Introduction

Ethnicity variation is one of the main factors that may affect drug response in clinical practice. Purpose of the current study was to observe possible variations in plasma levels of carbamazepine monotherapy and seizures’ control in Pakhtun population of Khyber Pakhtunkhwa (KP) in the context of MTHFR (C677T and A1298C) gene polymorphisms. We have recently observed that heterozygous variant (677CT and 1298 AC) of MTHFR gene frequently experienced low level of vitamin B6, which helps in synthesis of GABA, inhibitory neurotransmitters in carbamazepine treated patients. The current study is focused on the possible pharmacogenomics effect of MTHFR (C677T and A1298C) gene polymorphisms on carbamazepine monotherapy and its subsequent control on seizures with carbamazepine therapy in Pakhtun population of Khyber Pakhtunkhwa

Methods

Discussion

Conclusion