ASO targeting RBM3 temperature-controlled poison exon splicing prevents neurodegeneration in vivo.
Florian HeydHeather L SmithDaniel T HughesMin ZhangAnn-Kathrin EmmerichsSilvia ScalzittiDiego PerettiDean SwindenAlexander NeumannTom HaltenhofGiovanna R MallucciFlorian HeydPublished in: EMBO molecular medicine (2023)
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.
Keyphrases
- brain injury
- poor prognosis
- cerebral ischemia
- subarachnoid hemorrhage
- health risk
- binding protein
- long non coding rna
- genome wide
- heavy metals
- liver failure
- drug induced
- cardiac arrest
- type diabetes
- protein protein
- blood brain barrier
- copy number
- signaling pathway
- risk assessment
- high fat diet induced
- small molecule
- high glucose
- extracorporeal membrane oxygenation
- skeletal muscle
- metabolic syndrome
- mouse model
- acute respiratory distress syndrome
- transcription factor
- mild cognitive impairment
- stress induced
- dna methylation