Das Abhijit, Balan Shabeesh, Banerjee Moinak, Radhakrishnan Kurupath
R. Madhavan Nayar Center for Comprehensive Epilepsy Care, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.
Indian J Hum Genet. 2011 May;17 Suppl 1(Suppl 1):S12-21. doi: 10.4103/0971-6866.80353.
Multidrug resistance is one of the most serious problems in the treatment of epilepsy that is likely to have a complex genetic and acquired basis. Various experimental data support the hypothesis that over-expression of antiepileptic drug (AED) transporters may play a pivotal role in drug resistance. Hyyt 6however, key questions concerning their functionality remain unanswered. The idea that P-glycoprotein, encoded by the ABCB1 gene, might mediate at least part of the drug resistance was met with both enthusiasm and skepticism. As in oncology, initial optimism has been clouded subsequently by conflicting results. The first study reporting a positive association between genetic variation in the P-glycoprotein and multidrug-resistant epilepsy was published in 2003. Since then, several other genetic association studies have attempted to verify this result. However, taken overall, the role of P-glycoprotein in drug resistance in epilepsy still remains uncertain. We intend to critically review the inherent problems associated with epilepsy pharmacogenetic studies in general and with ABCB1 polymorphisms studies in particular. The lessons learnt from the ABCB1 studies can help us to guide future association genetics studies to investigate AED resistance, and thereby taking us closer to the cherished dream of personalized AED therapy.
多药耐药是癫痫治疗中最严重的问题之一,其可能具有复杂的遗传和后天基础。各种实验数据支持抗癫痫药物(AED)转运体的过表达可能在耐药中起关键作用这一假说。然而,关于其功能的关键问题仍未得到解答。由ABCB1基因编码的P-糖蛋白可能介导至少部分耐药性这一观点既受到了热情追捧,也遭到了质疑。与肿瘤学一样,最初的乐观情绪随后因相互矛盾的结果而蒙上了阴影。2003年发表了第一项报道P-糖蛋白基因变异与多药耐药性癫痫之间存在正相关的研究。从那时起,其他几项基因关联研究试图验证这一结果。然而,总体而言,P-糖蛋白在癫痫耐药中的作用仍然不确定。我们打算批判性地回顾一般癫痫药物遗传学研究,特别是ABCB1多态性研究中存在的固有问题。从ABCB1研究中吸取的经验教训可以帮助我们指导未来的关联遗传学研究,以调查AED耐药性,从而使我们更接近个性化AED治疗这一梦寐以求的目标。