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MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis
A. Korotkov, NS. Sim, MJ. Luinenburg, JJ. Anink, J. van Scheppingen, TS. Zimmer, A. Bongaarts, DWM. Broekaart, C. Mijnsbergen, FE. Jansen, W. Van Hecke, WGM. Spliet, PC. van Rijen, M. Feucht, JA. Hainfellner, P. Kršek, J. Zamecnik, PB. Crino, K....
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
33942341
DOI
10.1111/nan.12717
Knihovny.cz E-zdroje
- MeSH
- astrocyty metabolismus MeSH
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé MeSH
- mikro RNA genetika metabolismus MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mozek růst a vývoj patologie MeSH
- mozková kůra patologie MeSH
- myši inbrední C57BL MeSH
- neurony patologie MeSH
- předškolní dítě MeSH
- signální transdukce genetika MeSH
- tuberózní skleróza komplikace genetika patologie MeSH
- zvířata MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
AIMS: Tuberous sclerosis complex (TSC) is a genetic disorder associated with dysregulation of the mechanistic target of rapamycin complex 1 (mTORC1) signalling pathway. Neurodevelopmental disorders, frequently present in TSC, are linked to cortical tubers in the brain. We previously reported microRNA-34a (miR-34a) among the most upregulated miRs in tubers. Here, we characterised miR-34a expression in tubers with the focus on the early brain development and assessed the regulation of mTORC1 pathway and corticogenesis by miR-34a. METHODS: We analysed the expression of miR-34a in resected cortical tubers (n = 37) compared with autopsy-derived control tissue (n = 27). The effect of miR-34a overexpression on corticogenesis was assessed in mice at E18. The regulation of the mTORC1 pathway and the expression of the bioinformatically predicted target genes were assessed in primary astrocyte cultures from three patients with TSC and in SH-SY5Y cells following miR-34a transfection. RESULTS: The peak of miR-34a overexpression in tubers was observed during infancy, concomitant with the presence of pathological markers, particularly in giant cells and dysmorphic neurons. miR-34a was also strongly expressed in foetal TSC cortex. Overexpression of miR-34a in mouse embryos decreased the percentage of cells migrated to the cortical plate. The transfection of miR-34a mimic in TSC astrocytes negatively regulated mTORC1 and decreased the expression of the target genes RAS related (RRAS) and NOTCH1. CONCLUSIONS: MicroRNA-34a is most highly overexpressed in tubers during foetal and early postnatal brain development. miR-34a can negatively regulate mTORC1; however, it may also contribute to abnormal corticogenesis in TSC.
Brigham and Women's Hospital Harvard Medical School Boston MA USA
Chalfont Centre for Epilepsy Chalfont St Peter UK
Child Neurology and Psychiatry Unit Systems Medicine Department Tor Vergata University Rome Italy
Department of Child Neurology Medical University of Warsaw Warsaw Poland
Department of Clinical and Experimental Epilepsy University College London London UK
Department of Neuroimmunology Netherlands Institute for Neuroscience Amsterdam The Netherlands
Department of Neurology and Epileptology The Children's Memorial Health Institute Warsaw Poland
Department of Neurology University of Maryland School of Medicine Baltimore MD USA
Department of Paediatric Neurology University Medical Center Utrecht Utrecht The Netherlands
Department of Pathology University Medical Center Utrecht Utrecht The Netherlands
Department of Pediatrics Medical University Vienna Vienna Austria
Institute of Neurology Medical University Vienna Vienna Austria
Pediatric Neurology Unit Universitair Ziekenhuis Brussel Brussels Belgium
SoVarGen Inc Daejeon Republic of Korea
Stichting Epilepsie Instellingen Nederland Heemstede The Netherlands
Citace poskytuje Crossref.org
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