Institute of Human Genetics, Jena University Hospital, Jena, Germany.
Urology and Nephrology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Sci Rep. 2023 Oct 21;13(1):17993. doi: 10.1038/s41598-023-45341-7.
Calcium signaling is a metabolic pathway that is essential in neurons development and can be involved in the pathobiology of epilepsy. We assessed expression of three mRNA coding gene (SLC1A1, SLC25A12, and ATP2B2) and three related long non-coding RNAs (LINC01231:1, lnc-SLC25A12-8:1 and lnc-MTR-1:1) from this pathway in 39 patients with refractory epilepsy and 71 healthy controls. Expression of all genes except for lnc-SLC25A12 was higher in total epileptic cases compared with controls (P values = 0.0002, < 0.0001, < 0.0001, 0.049 and 0.0005 for SLC1A1, SLC25A12, LINC01231, ATP2B2 and lnc-MTR-1, respectively. When we separately compared expression of genes among males and females, SLC1A1, SLC25A12, LINC01231 and lnc-MTR-1 showed up-regulation in male cases compared with male controls. Moreover, expressions of SLC1A1 and SLC25A12 were higher in female cases compared with female controls. Remarkably, SLC25A12 was found to have the highest sensitivity value (= 1) for differentiation of epileptic cases from controls. Moreover, lnc-MTR-1 and lnc-SLC25A12 were sensitive markers for such purpose (sensitivity values = 0.89 and 0.87, respectively). The highest value belonged to LINC01231 with the value of 0.76. Taken together, this study demonstrates dysregulation of calcium-signaling related genes in epileptic patients and suggests these genes as potential biomarkers for epilepsy.
钙信号是神经元发育所必需的代谢途径，可能参与癫痫的病理生理学。我们评估了 39 例难治性癫痫患者和 71 例健康对照者中该途径的三个 mRNA 编码基因（SLC1A1、SLC25A12 和 ATP2B2）和三个相关的长非编码 RNA（LINC01231:1、lnc-SLC25A12-8:1 和 lnc-MTR-1:1）的表达。与对照组相比，所有基因（lnc-SLC25A12 除外）在总癫痫病例中的表达均升高（SLC1A1、SLC25A12、LINC01231、ATP2B2 和 lnc-MTR-1 的 P 值分别为 0.0002、<0.0001、<0.0001、0.049 和 0.0005）。当我们分别比较男性和女性病例中基因的表达时，SLC1A1、SLC25A12、LINC01231 和 lnc-MTR-1 在男性病例中表达上调，而 SLC1A1、SLC25A12、LINC01231 和 lnc-MTR-1 在男性病例中表达上调。此外，女性病例中 SLC1A1 和 SLC25A12 的表达高于女性对照者。值得注意的是，SLC25A12 是区分癫痫病例和对照者的最高敏感性值（=1）。此外，lnc-MTR-1 和 lnc-SLC25A12 是这种目的的敏感标志物（敏感性值分别为 0.89 和 0.87）。最高值属于 LINC01231，其值为 0.76。综上所述，本研究表明癫痫患者钙信号相关基因失调，并提示这些基因可能是癫痫的潜在生物标志物。
