ORIGINAL ARTICLE Expression analysis of beta-secretase 1 (BACE1) and its naturally occurring antisense (BACE1-AS) in blood of epileptic patients Mehrdokht Mazdeh 1,2 & Alireza Komaki 1 & Mir Davood Omrani 3,4 & Vajihe Gharzi 3 & Arezou Sayad 3 & Mohammad Taheri 3,4 & Soudeh Ghafouri-Fard 3,4 Received: 19 February 2018 /Accepted: 26 May 2018 # Springer-Verlag Italia S.r.l., part of Springer Nature 2018 Abstract Beta-secretase 1 (BACE1) gene encodes a transmembrane protease from the peptidase A1 family of aspartic proteases whose role in the pathogenesis of Alzheimer’s disease has been assessed. The enzymatic activity of BACE1 on several proteins implicated in epileptogenesis implies its role in the pathogenesis of epilepsy. In the present study, we assessed expression of BACE1 and its naturally occurring antisense (BACE1-AS) in peripheral blood of 40 epileptic patients and 40 age- and sex-matched healthy subjects. We did not detect either any difference in the expression of these genes between cases and controls or significant correlation between their expressions and participants’ age. However, we demonstrated a significant correlation between expres- sion levels of BACE1 and BACE1-AS which supports the previously suggested feed-forward mechanism of regulation between these two transcripts. Future studies in larger sample sizes are needed to elaborate the function of BACE1 in epilepsy. Keywords BACE1 . BACE1-AS . Epilepsy Introduction Beta-secretase 1 (BACE1) gene encodes a transmembrane protease from the peptidase A1 family of aspartic proteases. Its fundamental role in production of amyloid beta peptides as the principal elements of amyloid beta plaques has highlighted its participation in the pathogenesis of Alzheimer’s disease [22]. Moreover, the presence of beta-secretase 1 activity in a wide range of tissues [8] in addition to its highest activity in neural tissues [20] imply the participation of BACE1 in other disorders rather than Alzheimer’s disease. In addition to the amyloid precursor protein (APP), BACE1 has enzymatic ac- tivity on a wide range of substrates such as P-selectin glyco- protein ligand-1 (PSLG-1) [16], the voltage-gated sodium channel β2 subunit (Na v β2) [12], and neuregulin-1 (NRG1) [10] all of which contributed in the pathogenesis of epilepsy [5, 11, 15, 21]. Besides, BACE1 deficiency makes mice liable to unprompted and drug-induced seizure activity [9]. On the other hand, a naturally occurring antisense (BACE1- AS) has been recognized for BACE1 gene in the FANTOM project which has been shown to be transcribed from the oppo- site strand to BACE1 [4]. This gene encodes an unspliced long non-coding RNA (lncRNA) which produces an RNA duplex with BACE1 mRNA and enhances post-transcriptional feed-for- ward regulation of BACE1 [6]. Overexpression of BACE1-AS in patients with Alzheimer’s disease in addition to amyloid precur- sor protein transgenic mice support its role in the pathogenesis of Alzheimer’s disease [6]. Subsequent in vivo and in vitro studies provided evidences for participation of this lncRNA in the path- ogenesis of heart failure [7] and response to anti-cancer agents in ovarian and colon cancers [2, 14]. * Mohammad Taheri mohammad_823@yahoo.com * Soudeh Ghafouri-Fard s.ghafourifard@sbmu.ac.ir 1 Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran 2 Department of Neurology, Hamadan University of Medical Sciences, Hamadan, Iran 3 Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran 4 Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran Neurological Sciences https://doi.org/10.1007/s10072-018-3458-3