A novel insight into differential expression profiles of sporadic cerebral cavernous malformation patients with different symptoms
| dc.authorid | 0000-0001-6026-6052 | |
| dc.authorid | 0000-0002-1502-1600 | |
| dc.contributor.author | Gozel, Hilal Eren | |
| dc.contributor.author | Kök, Kıvanç | |
| dc.contributor.author | Özlen, Fatma | |
| dc.contributor.author | İşler, Cihan | |
| dc.contributor.author | Pençe, Sadrettin | |
| dc.date.accessioned | 2021-10-08T07:15:12Z | |
| dc.date.available | 2021-10-08T07:15:12Z | |
| dc.date.issued | 2021 | |
| dc.department | İstanbul Medipol Üniversitesi, Rektörlük, Rejeneratif ve Restoratif Tıp Araştırmaları Merkezi (REMER) | |
| dc.department | İstanbul Medipol Üniversitesi, Rektörlük, Sağlık Bilim ve Teknolojileri Araştırma Enstitüsü | |
| dc.department | İstanbul Medipol Üniversitesi, Uluslararası Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Biyoistatistik ve Tıp Bilişimi Ana Bilim Dalı | |
| dc.description.abstract | Cerebral cavernous malformation (CCM) is a vascular lesion of the central nervous system that may lead to distinct symptoms among patients including cerebral hemorrhages, epileptic seizures, focal neurologic deficits, and/or headaches. Disease-related mutations were identified previously in one of the three CCM genes: CCM1, CCM2, and CCM3. However, the rate of these mutations in sporadic cases is relatively low, and new studies report that mutations in CCM genes may not be sufficient to initiate the lesions. Despite the growing body of research on CCM, the underlying molecular mechanism has remained largely elusive. In order to provide a novel insight considering the specific manifested symptoms, CCM patients were classified into two groups (as Epilepsy and Hemorrhage). Since the studied patients experience various symptoms, we hypothesized that the underlying cause for the disease may also differ between those groups. To this end, the respective transcriptomes were compared to the transcriptomes of the control brain tissues and among each other. This resulted into the identification of the differentially expressed coding genes and the delineation of the corresponding differential expression profile for each comparison. Notably, some of those differentially expressed genes were previously implicated in epilepsy, cell structure formation, and cell metabolism. However, no CCM1-3 gene deregulation was detected. Interestingly, we observed that when compared to the normal controls, the expression of some identified genes was only significantly altered either in Epilepsy (EGLN1, ELAVL4, and NFE2l2) or Hemorrhage (USP22, EYA1, SIX1, OAS3, SRMS) groups. To the best of our knowledge, this is the first such effort focusing on CCM patients with epileptic and hemorrhagic symptoms with the purpose of uncovering the potential CCM-related genes. It is also the first report that presents a gene expression dataset on Turkish CCM patients. The results suggest that the new candidate genes should be explored to further elucidate the CCM pathology. Overall, this work constitutes a step towards the identification of novel potential genetic targets for the development of possible future therapies. | |
| dc.identifier.citation | Gozel, H. E., Kök, K., Özlen, F., İşler, C. ve Pençe, S. (2021). A novel insight into differential expression profiles of sporadic cerebral cavernous malformation patients with different symptoms. Scientific Reports, 11(1). https://dx.doi.org/10.1038/s41598-021-98647-9 | |
| dc.identifier.doi | 10.1038/s41598-021-98647-9 | |
| dc.identifier.issn | 2045-2322 | |
| dc.identifier.issue | 1 | |
| dc.identifier.scopusquality | Q1 | |
| dc.identifier.uri | https://dx.doi.org/10.1038/s41598-021-98647-9 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12511/8390 | |
| dc.identifier.volume | 11 | |
| dc.identifier.wosquality | Q1 | |
| dc.indekslendigikaynak | Web of Science | |
| dc.indekslendigikaynak | Scopus | |
| dc.indekslendigikaynak | PubMed | |
| dc.language.iso | en | |
| dc.publisher | Nature Research | |
| dc.relation.ispartof | Scientific Reports | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | |
| dc.rights | Attribution 4.0 International | * |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | * |
| dc.subject | Different Symptoms | |
| dc.subject | Malformation Patients | |
| dc.subject | Sporadic Cerebral Cavernous | |
| dc.title | A novel insight into differential expression profiles of sporadic cerebral cavernous malformation patients with different symptoms | |
| dc.type | Article |
