Peripheral expression of Rubicon Like Autophagy Enhancer is reduced in epileptic patients

Abstract

Epilepsy is regarded as a common neurological disorder which affects about 1 of general population. Dysregulation of several signaling pathways has been reported in epileptic patients. In the present study, we examined peripheral expression of an autophagy associated gene namely Rubicon Like Autophagy Enhancer (RUBCNL) in 80 epileptic patients (40 refractory and 40 non-refractory ones) and 40 normal persons. Expression of RUBCNL was significantly lower in refractory group compared with controls (Posterior beta of relative expression (RE) = -1.617, P value < 0.0001). Moreover, expression of this gene was lower in non-refractory patients compared with controls (Posterior beta of RE = -1.634, P value < 0.0001). However, expression of RUBCNL was not different between refractory and non-refractory patients. Differences between non-refractory and control groups were detected in both female and male subgroup analyses. However, difference between male refractory and male control groups was not significant. Expression of RUBCNL was not correlated with age of study participants (P= 0.725). Transcript levels of RUBCNL could differentiate refractory group from controls with diagnostic power of 0.803. Transcript levels of this gene could discriminate non-refractory group from controls with diagnostic power of 0.887. However, RUBCNL could not differentiate non-refractory group from refractory ones (Area under curve = 0.541, P = 0.535). The current study shows dysregulation of an autophagy-associated gene in peripheral blood of epileptic patients and demonstrates its possible application as a biomarker.