Dhx57,也称为DEAH-box helicase 57,是一种DEAH-box RNA解旋酶。DEAH-box RNA解旋酶是一类在RNA代谢中发挥关键作用的蛋白质,参与RNA的合成、加工、转运和降解。Dhx57在多种生物学过程中发挥作用,包括细胞分化、发育、代谢和疾病发生。
Dhx57在多种疾病中发挥重要作用。例如,在非阻塞性无精子症(NOA)中,Dhx57的表达水平显著下调。NOA是一种常见的男性不育症,其病因和发病机制尚不明确。研究发现,Dhx57等基因的表达异常可能与NOA的发生发展有关[1]。此外,Dhx57的表达水平还与阿尔茨海默病、年龄相关性黄斑变性、帕金森病等年龄相关性疾病的发生发展相关[2]。
Dhx57的表达异常还与癌症的发生发展相关。例如,在儿童高级别胶质瘤(pHGG)中,Dhx57基因发生复杂的融合事件,形成新的融合基因DHX57:TMEM178:MAP4K3。这种融合基因的表达可能参与pHGG的发生发展,并影响患者的预后[4]。此外,Dhx57的表达水平还与铝暴露工人的认知功能障碍相关。研究发现,Dhx57的表达水平下调与铝暴露引起的轻度认知障碍有关[3]。
综上所述,Dhx57是一种重要的DEAH-box RNA解旋酶,参与RNA的代谢和多种生物学过程。Dhx57的表达异常与多种疾病的发生发展相关,包括男性不育症、年龄相关性疾病和癌症等。深入研究Dhx57的功能和调控机制,有助于揭示相关疾病的发病机制,并为疾病的诊断、治疗和预防提供新的思路和策略。
参考文献:
1. Chen, Yinwei, Yuan, Penghui, Gu, Longjie, Wang, Zhao, Liu, Chang. 2023. Constructing a seventeen-gene signature model for non-obstructive azoospermia based on integrated transcriptome analyses and WGCNA. In Reproductive biology and endocrinology : RB&E, 21, 30. doi:10.1186/s12958-023-01079-5. https://pubmed.ncbi.nlm.nih.gov/36945018/
2. Lu, Ake T, Hannon, Eilis, Levine, Morgan E, Dracheva, Stella, Horvath, Steve. 2016. Genetic variants near MLST8 and DHX57 affect the epigenetic age of the cerebellum. In Nature communications, 7, 10561. doi:10.1038/ncomms10561. https://pubmed.ncbi.nlm.nih.gov/26830004/
3. Shang, Nan, Li, Xianlin, Zhang, Lan, Niu, Qiao, Zheng, Xiaojun. 2024. Zinc as a Mediator Through the ROCK1 Pathway of Cognitive Impairment in Aluminum-Exposed Workers: A Clinical and Animal Study. In Biological trace element research, 202, 5413-5428. doi:10.1007/s12011-024-04119-2. https://pubmed.ncbi.nlm.nih.gov/38407795/
4. Carvalho, Diana, Mackay, Alan, Bjerke, Lynn, Reis, Rui M, Jones, Chris. 2014. The prognostic role of intragenic copy number breakpoints and identification of novel fusion genes in paediatric high grade glioma. In Acta neuropathologica communications, 2, 23. doi:10.1186/2051-5960-2-23. https://pubmed.ncbi.nlm.nih.gov/24548782/