ASO targeting RBM3 temperature-controlled poison exon splicing prevents neurodegeneration in vivo.

RBM3 alternative splicing coupled to nonsense-mediated decay hypothermia neurodegenerative diseases neuroprotection

Journal

EMBO molecular medicine
ISSN: 1757-4684
Titre abrégé: EMBO Mol Med
Pays: England
ID NLM: 101487380

Informations de publication

Date de publication:
08 05 2023
Historique:
revised: 16 02 2023
received: 09 11 2022
accepted: 18 02 2023
medline: 9 5 2023
pubmed: 23 3 2023
entrez: 22 3 2023
Statut: ppublish

Résumé

Neurodegenerative diseases are increasingly prevalent in the aging population, yet no disease-modifying treatments are currently available. Increasing the expression of the cold-shock protein RBM3 through therapeutic hypothermia is remarkably neuroprotective. However, systemic cooling poses a health risk, strongly limiting its clinical application. Selective upregulation of RBM3 at normothermia thus holds immense therapeutic potential. Here we identify a poison exon within the RBM3 gene that is solely responsible for its cold-induced expression. Genetic removal or antisense oligonucleotide (ASO)-mediated manipulation of this exon yields high RBM3 levels independent of cooling. Notably, a single administration of ASO to exclude the poison exon, using FDA-approved chemistry, results in long-lasting increased RBM3 expression in mouse brains. In prion-diseased mice, this treatment leads to remarkable neuroprotection, with prevention of neuronal loss and spongiosis despite high levels of disease-associated prion protein. Our promising results in mice support the possibility that RBM3-inducing ASOs might also deliver neuroprotection in humans in conditions ranging from acute brain injury to Alzheimer's disease.

Identifiants

pubmed: 36946385
doi: 10.15252/emmm.202217157
pmc: PMC10165353
doi:

Substances chimiques

Oligonucleotides, Antisense 0
Poisons 0
RNA-Binding Proteins 0
RBM3 protein, human 0
Rbm3 protein, mouse 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e17157

Subventions

Organisme : Medical Research Council
ID : MC_U132692719
Pays : United Kingdom

Informations de copyright

© 2023 The Authors. Published under the terms of the CC BY 4.0 license.

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Auteurs

Marco Preußner (M)

Institut für Chemie und Biochemie, RNA Biochemie, Freie Universität Berlin, Berlin, Germany.

Heather L Smith (HL)

UK Dementia Research Institute and Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Altos Labs, Cambridge Institute of Science, Cambridge, UK.

Daniel Hughes (D)

UK Dementia Research Institute and Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Min Zhang (M)

Institut für Chemie und Biochemie, RNA Biochemie, Freie Universität Berlin, Berlin, Germany.

Ann-Kathrin Emmerichs (AK)

Institut für Chemie und Biochemie, RNA Biochemie, Freie Universität Berlin, Berlin, Germany.

Silvia Scalzitti (S)

Institut für Chemie und Biochemie, RNA Biochemie, Freie Universität Berlin, Berlin, Germany.

Diego Peretti (D)

UK Dementia Research Institute and Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Dean Swinden (D)

UK Dementia Research Institute and Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Altos Labs, Cambridge Institute of Science, Cambridge, UK.

Alexander Neumann (A)

Institut für Chemie und Biochemie, RNA Biochemie, Freie Universität Berlin, Berlin, Germany.
Omiqa Bioinformatics, Berlin, Germany.

Tom Haltenhof (T)

Institut für Chemie und Biochemie, RNA Biochemie, Freie Universität Berlin, Berlin, Germany.
Omiqa Bioinformatics, Berlin, Germany.

Giovanna R Mallucci (GR)

UK Dementia Research Institute and Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Altos Labs, Cambridge Institute of Science, Cambridge, UK.

Florian Heyd (F)

Institut für Chemie und Biochemie, RNA Biochemie, Freie Universität Berlin, Berlin, Germany.

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