School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, 2308, Australia.
Centre for Brain and Mental Health Research, The University of Newcastle, Callaghan, NSW, 2308, Australia.
Neuropsychopharmacology. 2019 May;44(6):1043-1054. doi: 10.1038/s41386-019-0348-1. Epub 2019 Feb 20.
Circular RNAs (circRNAs) are a covalently closed subclass of non-coding RNA molecules formed by back splicing of linear precursor RNA. These molecules are relatively stable and particularly abundant in the mammalian brain and therefore may participate in neural development and function. With the emergence of circRNAs activity in gene regulation, these molecules have been implicated in several biological processes, including synaptic plasticity, and we therefore suspect they may have a role in neurobehavioral disorders. Here, we profile cortical circRNAs expression in 35 postmortem cortical gray matter (BA46) schizophrenia and a non-psychiatric comparison group, using circRNA enrichment sequencing. While more than 90,000 circRNAs species were identified in the dorsolateral prefrontal cortex (DLPFC), we observed lower complexity and substantial depletion in subjects with the disorder. Although circRNAs expression was independent of their host gene transcription, alternative splicing rates were lower in samples from cases compared to controls. Gene set analysis of differentially expressed circRNAs host genes revealed significant enrichment of neural functions and neurological disorders. Many of these depleted circRNAs are also predicted to sequester miRNAs that were shown previously to be increased in the disorder, potentially exacerbating the functional impact of their dysregulation through posttranscriptional gene silencing. While this is the first reported exploration of circRNAs in schizophrenia, there is significant potential for dysregulation more broadly in other major mental illnesses and behavioral disorders. Given their capacity for modulating miRNA function, circRNA may play a significant role in the pathophysiology of disease and even be targeted for therapeutic manipulation.
环状 RNA(circRNAs)是一类通过线性前体 RNA 的反向剪接形成的共价闭合的非编码 RNA 分子。这些分子相对稳定,在哺乳动物大脑中特别丰富,因此可能参与神经发育和功能。随着 circRNAs 在基因调控中的活性的出现,这些分子已被牵涉到几种生物学过程中,包括突触可塑性,因此我们怀疑它们可能在神经行为障碍中起作用。在这里,我们使用 circRNA 富集测序技术对 35 例死后大脑皮质(BA46)精神分裂症和非精神病对照组的皮质 circRNAs 表达进行了分析。虽然在背外侧前额叶皮层(DLPFC)中鉴定出了超过 90000 种 circRNAs 物种,但我们观察到该疾病患者的复杂性降低,且存在大量损耗。尽管 circRNAs 的表达与其宿主基因转录无关,但与对照组相比,病例样本中的剪接率较低。差异表达 circRNAs 宿主基因的基因集分析显示出神经功能和神经紊乱的显著富集。许多这些被消耗的 circRNAs 也被预测可以隔离先前在该疾病中显示增加的 miRNAs,通过转录后基因沉默,可能会加剧其失调的功能影响。虽然这是首次在精神分裂症中探索 circRNAs,但在其他主要精神疾病和行为障碍中,circRNAs 的失调具有很大的潜力。鉴于它们调节 miRNA 功能的能力,circRNA 可能在疾病的病理生理学中发挥重要作用,甚至可以作为治疗干预的靶点。