Abstract
Epilepsy is misdiagnosed in up to 25% of patients, leading to serious and long-lasting consequences. Recently, circulating microRNAs have emerged as potential biomarkers in a number of clinical scenarios. The purpose of this study was to identify and to validate circulating microRNAs that could be used as biomarkers in the diagnosis of epilepsy. Quantitative real-time PCR was used to measure plasma levels of three candidate microRNAs in two phases of study: an initial discovery phase with 14 patients with mesial temporal lobe epilepsy (MTLE), 13 with focal cortical dysplasia (FCD) and 16 controls; and a validation cohort constituted of an independent cohort of 65 patients with MTLE and 83 controls. We found hsa-miR-134 downregulated in patients with MTLE (p = 0.018) but not in patients with FCD, when compared to controls. Furthermore, hsa-miR-134 expression could be used to discriminate MTLE patients with an area under the curve (AUC) of 0.75. To further assess the robustness of hsa-miR-134 as a biomarker for MTLE, we studied an independent cohort of 65 patients with MTLE, 27 of whom MTLE patients were responsive to pharmacotherapy, and 38 patients were pharmacoresistant and 83 controls. We confirmed that hsa-miR-134 was significantly downregulated in the plasma of patients with MTLE when compared with controls (p < 0.001). In addition, hsa-miR-134 identified patients with MTLE regardless of their response to pharmacotherapy or the presence of MRI signs of hippocampal sclerosis. We revealed that decreased expression of hsa-miR-134 could be a potential non-invasive biomarker to support the diagnosis of patients with MTLE.
Highlights
The diagnosis of epilepsy is currently based on neurological history, EEG and neuro-imaging findings [1]
We identified that only hsa-miR-134 was significantly downregulated in plasma of patients with mesial temporal lobe epilepsy (MTLE) when compared to controls (p = 0.018; Fig 1A)
We investigated plasma levels of three microRNAs in a study designed to identify a non-invasive biomarker that could assist in the sub-syndromic diagnosis of epilepsy
Summary
The diagnosis of epilepsy is currently based on neurological history, EEG and neuro-imaging findings [1]. The correct diagnosis of epilepsy would allow patients to receive an appropriate treatment and could prevent unnecessary side effects from long-term medication such as adverse psychological and social consequences. Misdiagnosis of epilepsy is frequent, occurring in around 25% of patients [3] and in paediatric series this number is higher; 39% of children in Denmark do not receive correct diagnosis [4]. There is still the need for additional biomarkers which could improve and support the diagnosis of epilepsy [6, 7], and for better defining cohorts for clinical trials
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