PMID- 24560344 OWN - NLM STAT- MEDLINE DCOM- 20141030 LR - 20211203 IS - 1872-6844 (Electronic) IS - 0920-1211 (Linking) VI - 108 IP - 3 DP - 2014 Mar TI - miRNA expression analysis in cortical dysplasia: regulation of mTOR and LIS1 pathway. PG - 433-41 LID - S0920-1211(14)00018-7 [pii] LID - 10.1016/j.eplepsyres.2014.01.005 [doi] AB - Cortical dysplasia (CD) is a common cause of epilepsy in children and is characterized by focal regions of malformed cerebral cortex. The pathogenesis and epileptogenesis of CD have not been fully elucidated, and in particular, the potential role of epigenetics has not been examined. miRNA microarray was performed on surgical specimens from CD (n=8) and normal control (n=2) children. A total of 10 differentially expressed miRNAs (DEmiRs) that were up-regulated in CD were identified including hsa-miR-21 and hsa-miR-155. The microarray results were validated using quantitative real-time PCR. After searching for the putative target genes of the DEmiRs, their biological significance was further evaluated by exploring the pathways in which the genes were enriched. The mammalian target of rapamycin (mTOR) signaling pathway was the most significantly associated, and the pathway of lissencephaly gene in neuronal migration and development was also noted. This study suggests a possible role for miRNAs in the pathogenesis of CD, especially in relation to the mTOR signaling pathway. Future studies on the epigenetic mechanisms underlying CD pathogenesis and epileptogenesis are needed. CI - Copyright (c) 2014 Elsevier B.V. All rights reserved. FAU - Lee, Ji Yeoun AU - Lee JY AD - Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. FAU - Park, Ae-Kyung AU - Park AK AD - College of Pharmacy, Sunchon National University, Jeonnam, Republic of Korea. FAU - Lee, Eun-Sun AU - Lee ES AD - Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. FAU - Park, Woong-Yang AU - Park WY AD - Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon, Republic of Korea; Translational Genomics Laboratory, Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea. FAU - Park, Sung-Hye AU - Park SH AD - Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. FAU - Choi, Jung Won AU - Choi JW AD - Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. FAU - Phi, Ji Hoon AU - Phi JH AD - Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. FAU - Wang, Kyu-Chang AU - Wang KC AD - Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. FAU - Kim, Seung-Ki AU - Kim SK AD - Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address: nsthomas@snu.ac.kr. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20140130 PL - Netherlands TA - Epilepsy Res JT - Epilepsy research JID - 8703089 RN - 0 (MicroRNAs) RN - 0 (Microtubule-Associated Proteins) RN - 0 (RNA, Messenger) RN - EC 2.7.1.1 (MTOR protein, human) RN - EC 2.7.11.1 (TOR Serine-Threonine Kinases) RN - EC 3.1.1.47 (1-Alkyl-2-acetylglycerophosphocholine Esterase) RN - EC 3.1.1.47 (PAFAH1B1 protein, human) SB - IM MH - 1-Alkyl-2-acetylglycerophosphocholine Esterase/genetics/*metabolism MH - Adolescent MH - Child MH - Child, Preschool MH - Female MH - Gene Expression Profiling MH - Humans MH - Infant MH - Male MH - Malformations of Cortical Development/*genetics/metabolism MH - MicroRNAs/genetics/*metabolism MH - Microtubule-Associated Proteins/genetics/*metabolism MH - Oligonucleotide Array Sequence Analysis MH - RNA, Messenger/metabolism MH - Signal Transduction/*genetics MH - TOR Serine-Threonine Kinases/genetics/*metabolism OTO - NOTNLM OT - Cortical dysplasia OT - LIS1 OT - Microarray OT - mTOR OT - miRNA EDAT- 2014/02/25 06:00 MHDA- 2014/10/31 06:00 CRDT- 2014/02/25 06:00 PHST- 2013/06/24 00:00 [received] PHST- 2013/12/11 00:00 [revised] PHST- 2014/01/14 00:00 [accepted] PHST- 2014/02/25 06:00 [entrez] PHST- 2014/02/25 06:00 [pubmed] PHST- 2014/10/31 06:00 [medline] AID - S0920-1211(14)00018-7 [pii] AID - 10.1016/j.eplepsyres.2014.01.005 [doi] PST - ppublish SO - Epilepsy Res. 2014 Mar;108(3):433-41. doi: 10.1016/j.eplepsyres.2014.01.005. Epub 2014 Jan 30.