posted on 2020-07-10, 14:16authored byAlberto Parras Rodriguez, Laura De Diego Garcia, Mariana Alves, Edward Beamer, Giorgia Conte, Eva M Jimenez-Mateos, James Morgan, ivana olla, Yasmina Hernandez-Santana, Norman DelantyNorman Delanty, Michael A Farrell, Donncha F. O'Brien, Alejandro Ocampo, David HenshallDavid Henshall, Raul Mendez de la Iglesia, jose J Lucas, Tobias EngelTobias Engel
Temporal lobe epilepsy is the most common and refractory form of epilepsy in adults. Gene expression within affected structures
such as the hippocampus displays extensive dysregulation and is implicated as a central pathomechanism. Post-transcriptional
mechanisms are increasingly recognized as determinants of the gene expression landscape, but key mechanisms remain unexplored.
Here we show, for first time, that cytoplasmic mRNA polyadenylation, one of the post-transcriptional mechanisms regulating
gene expression, undergoes widespread reorganization in temporal lobe epilepsy. In the hippocampus of mice subjected to status
epilepticus and epilepsy, we report 425% of the transcriptome displays changes in their poly(A) tail length, with deadenylation
disproportionately affecting genes previously associated with epilepsy. Suggesting cytoplasmic polyadenylation element binding
proteins (CPEBs) being one of the main contributors to mRNA polyadenylation changes, transcripts targeted by CPEBs were particularly enriched among the gene pool undergoing poly(A) tail alterations during epilepsy. Transcripts bound by CPEB4 were
over-represented among transcripts with poly(A) tail alterations and epilepsy-related genes and CPEB4 expression was found to be
increased in mouse models of seizures and resected hippocampi from patients with drug-refractory temporal lobe epilepsy. Finally,
supporting an adaptive function for CPEB4, deletion of Cpeb4 exacerbated seizure severity and neurodegeneration during status
epilepticus and the development of epilepsy in mice. Together, these findings reveal an additional layer of gene expression regulation during epilepsy and point to novel targets for seizure control and disease-modification in epilepsy.
Funding
Health Research Board HRA-POR-2015-1243
Science Foundation Ireland (13/SIRG/2098 and 17/CDA/4708)
European Regional Development Fund
FutureNeuro industry partners 16/RC/3948
H2020 Marie Sklodowska-Curie Actions Individual Fellowship (796600 and 753527)
European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement (766124)
ISCIII-CiberNed collaborative grants PI2015-2/06-3 and PI2018/06-1
MINECO/MCIU grants SAF2015-65371-R and RTI2018-096322-B-I00 from the MINECO/MCIU (BFU2017-83561-P)
Fundación BBVA
Fundación Bancaria “la Caixa”
Fundación La marato TV3
Scientific Foundation of the Spanish Association Against Cancer (AECC)
Fundación Ramón Areces
CIBERNED-Ayuda a la movilidad
Spark grant (SNSF) CRSK-3_190764/1
Severo Ochoa Award of Excellence from MINECO (Government of Spain)
CERCA Programme (Catalan Government)
History
Comments
This article has been accepted for publication in Brain. Published by Oxford University Press.
Published Citation
Parras A, et al. Polyadenylation of mRNA as a novel regulatory mechanism of gene expression in temporal lobe epilepsy. Brain. 2020;143(7):2139-2153.