Institut für Chemie und Biochemie, RNA Biochemie, Freie Universität Berlin, Berlin, Germany.
UK Dementia Research Institute and Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
EMBO Mol Med. 2023 May 8;15(5):e17157. doi: 10.15252/emmm.202217157. Epub 2023 Mar 22.
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.
神经退行性疾病在老年人群中越来越普遍,但目前尚无疾病修饰治疗方法。通过治疗性低温增加冷休克蛋白 RBM3 的表达具有显著的神经保护作用。然而,全身降温会带来健康风险,强烈限制了其临床应用。因此,在正常体温下选择性地上调 RBM3 的表达具有巨大的治疗潜力。在这里,我们在 RBM3 基因中鉴定出一个仅负责其冷诱导表达的“毒”外显子。通过基因敲除或反义寡核苷酸(ASO)介导的这种外显子的操作,可以在不降温的情况下产生高 RBM3 水平。值得注意的是,使用 FDA 批准的化学物质单次给药排除“毒”外显子,可导致小鼠大脑中 RBM3 的表达持续长时间增加。在朊病毒病小鼠中,这种治疗方法可显著保护神经元,尽管存在高水平的疾病相关朊病毒蛋白,但仍能预防神经元丢失和海绵样变性。我们在小鼠中的有希望的结果支持这样一种可能性,即 RBM3 诱导的 ASO 也可能在从急性脑损伤到阿尔茨海默病等各种情况下为人类提供神经保护。