Universität zu Köln

Robens, Barbara K., Gembe, Eva, Fassunke, Jana, Becker, Albert J., Schoch, Susanne and Grote, Alexander (2016). Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas. Life Sci., 155. S. 70 - 76. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1879-0631

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Abstract

Aims: Chronic epilepsy associated gangliogliomas (GGs) represent tumors composed of irregularly distributed, often dysmorphic, neurons and neoplastic astroglia. The pathogenesis of GGs is largely unknown. Low-density lipoprotein receptor-related protein 12 (LRP12) is critical for brain development and involved in tumorigenesis of non-cerebral neoplasms. Main methods: Here, we have examined a potential role of LRP12 in the pathogenesis of GGs by a combination of mRNA quantification and molecular-biological in vitro assays. Key findings: We observed a significant increase of the single nucleotide polymorphism(SNP) rs9694676 C-allele, located in the LRP12 promoter, in GGs compared to normal control individuals. C-allele expression is correlated with abundant seizure frequency. Expression of LRP12 was lower in GGs than in control brain. In luciferase assays, the C-allele of rs9694676 decreases both, the basal LRP12 core promoter activity and the stimulatory effect of the transcription factor (TF) STAT5a. Significance: Accumulation of functional promoter-associated allelic variants with impact on the transcriptional regulation of LRP12 provides a new pathomechanism for GGs, i.e. highly differentiated epileptogenic brain tumors. (C) 2016 Elsevier Inc. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Robens, Barbara K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gembe, Eva UNSPECIFIED UNSPECIFIED UNSPECIFIED Fassunke, Jana UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Albert J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schoch, Susanne UNSPECIFIED UNSPECIFIED UNSPECIFIED Grote, Alexander UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-272253
DOI:	10.1016/j.lfs.2016.01.049
Journal or Publication Title:	Life Sci.
Volume:	155
Page Range:	S. 70 - 76
Date:	2016
Publisher:	PERGAMON-ELSEVIER SCIENCE LTD
Place of Publication:	OXFORD
ISSN:	1879-0631
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language TEMPORAL-LOBE EPILEPSY; TRANSMEMBRANE PROTEIN; GLIONEURONAL LESIONS; SCORING MATRICES; EXPRESSION; GENES; MECHANISMS; SCLEROSIS; SEQUENCES; PATTERNS Multiple languages Medicine, Research & Experimental; Pharmacology & Pharmacy Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/27225