Department of Basic Medical Sciences, School of Medicine, Xiamen University, Xiamen, 361102, Fujian, PR China.
Xiamen Key Laboratory of Brain Center, The First Affiliated Hospital of Xiamen University, and Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, School of Medicine, Xiamen University, Xiamen, 361102, Fujian, PR China.
Neuropsychopharmacology. 2022 Nov;47(12):2042-2050. doi: 10.1038/s41386-022-01373-7. Epub 2022 Jul 11.
Alzheimer's disease (AD) is the most common form of dementia with no effective treatment options. A complete elucidation of its underlying molecular mechanisms, including the transcription regulation of genes critically involved in AD, may shed light on new therapeutic development. RPS23RG1 is a newly identified AD-associated gene, whose expression is decreased in AD and restoration can attenuate AD-like phenotypes in animal models. However, the transcription regulation of RPS23RG1 remains unknown. In this study, we explored the promoter of RPS23RG1 and identified its transcription initiation site (TSS) at 1525 bp upstream of the ATG translation start codon. Progressive deletion analysis determined the presence of a negative regulatory region and a positive regulatory region within nucleotide positions +1127 to +1187 and +732 to +1127 relative to the TSS (+1), respectively. We conducted a reporter system to screen for compounds that increase RPS23RG1 expression through antagonizing its negative regulatory elements and identified phenazopyridine. Importantly, we demonstrated that phenazopyridine not only promoted RPS23RG1/Rps23rg1 expression, but also reduced AD-like pathologies and cognitive impairments in the APP/PS1 AD model mice. We also determined a critical negative regulatory domain of RPS23RG1 within nucleotide positions +1177 to +1187 and found that the transcription factor SMAD3 bound to this domain. Inhibition of SMAD3 promoted RPS23RG1 expression. Moreover, phenazopyridine reduced SMAD3 binding to the RPS23RG1 promoter without affecting SMAD3 phosphorylation and nuclear localization. Taken together, our results determine the transcription regulation mechanism of RPS23RG1 and show that phenazopyridine has potential for AD treatment through regulating RPS23RG1 transcription.
阿尔茨海默病(AD)是最常见的痴呆症形式,目前尚无有效的治疗方法。全面阐明其潜在的分子机制,包括对 AD 中关键基因的转录调控,可能为新的治疗方法的开发提供线索。RPS23RG1 是一种新发现的与 AD 相关的基因,其在 AD 中表达降低,恢复表达可减轻动物模型中的 AD 样表型。然而,RPS23RG1 的转录调控仍不清楚。在这项研究中,我们探讨了 RPS23RG1 的启动子,并确定了其转录起始位点(TSS)位于 ATG 翻译起始密码子上游 1525bp 处。逐步缺失分析确定,在相对于 TSS(+1)的核苷酸位置+1127 至+1187 和+732 至+1127 处,存在负调控区和正调控区。我们进行了报告基因系统筛选,以发现通过拮抗其负调控元件来增加 RPS23RG1 表达的化合物,并鉴定出了 phenazopyridine。重要的是,我们证明了 phenazopyridine 不仅促进了 RPS23RG1/Rps23rg1 的表达,而且减少了 APP/PS1 AD 模型小鼠的 AD 样病理和认知障碍。我们还确定了 RPS23RG1 内核苷酸位置+1177 至+1187 的关键负调控域,并发现转录因子 SMAD3 结合到该域。抑制 SMAD3 促进了 RPS23RG1 的表达。此外,phenazopyridine 降低了 SMAD3 与 RPS23RG1 启动子的结合,而不影响 SMAD3 磷酸化和核定位。总之,我们的结果确定了 RPS23RG1 的转录调控机制,并表明 phenazopyridine 通过调节 RPS23RG1 转录具有治疗 AD 的潜力。