Fbxl22(F-box and leucine-rich protein 22)是一种在骨骼肌中发挥重要作用的基因。它编码一种E3泛素连接酶,该酶在肌肉萎缩过程中发挥作用。Fbxl22的表达在神经源性肌肉萎缩的早期阶段被诱导,且其过表达会导致肌肉病/萎缩的症状。此外,Fbxl22的敲低可以显著减轻肌肉萎缩的症状,表明Fbxl22在肌肉萎缩过程中发挥重要作用[3]。
在心脏再生过程中,Fbxl22的表达也会发生变化。研究发现,在再生的心肌细胞中,Fbxl22的表达水平升高,且其表达水平与心肌细胞的增殖和突起形成相关[1]。此外,Fbxl22的表达还与染色质可及性相关,Fbxl22的表达水平升高会导致染色质可及性的增加,从而促进心肌细胞的再生过程[1]。
在遗传疾病中,Fbxl22也与某些疾病相关。研究发现,Fbxl22的突变与一些遗传疾病相关,如肌萎缩侧索硬化症(ALS)和肌营养不良症[2]。此外,Fbxl22的表达水平也与前列腺腺癌的复发风险相关,Fbxl22表达水平升高与前列腺腺癌的复发风险增加相关[4]。在非洲裔美国女性中,Fbxl22的罕见变异与ER-乳腺癌的易感性相关[5]。
综上所述,Fbxl22是一种在骨骼肌和心脏再生过程中发挥重要作用的基因。Fbxl22的表达水平与肌肉萎缩、心脏再生、遗传疾病和肿瘤的发生发展相关。进一步研究Fbxl22的功能和调控机制,有助于深入理解其在生物学过程和疾病发生中的作用,为疾病的治疗和预防提供新的思路和策略。
参考文献:
1. Beisaw, Arica, Kuenne, Carsten, Guenther, Stefan, Looso, Mario, Stainier, Didier Y R. 2020. AP-1 Contributes to Chromatin Accessibility to Promote Sarcomere Disassembly and Cardiomyocyte Protrusion During Zebrafish Heart Regeneration. In Circulation research, 126, 1760-1778. doi:10.1161/CIRCRESAHA.119.316167. https://pubmed.ncbi.nlm.nih.gov/32312172/
2. Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Meyer, Brian F, Alkuraya, Fowzan S. 2017. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. In Human genetics, 136, 921-939. doi:10.1007/s00439-017-1821-8. https://pubmed.ncbi.nlm.nih.gov/28600779/
3. Hughes, David C, Baehr, Leslie M, Driscoll, Julia R, Waddell, David S, Bodine, Sue C. 2020. Identification and characterization of Fbxl22, a novel skeletal muscle atrophy-promoting E3 ubiquitin ligase. In American journal of physiology. Cell physiology, 319, C700-C719. doi:10.1152/ajpcell.00253.2020. https://pubmed.ncbi.nlm.nih.gov/32783651/
4. Liu, Jin, Tan, Zhao, Yang, Shijie, Song, Xinda, Li, Wenping. 2022. A circadian rhythm-related gene signature for predicting relapse risk and immunotherapeutic effect in prostate adenocarcinoma. In Aging, 14, 7170-7185. doi:10.18632/aging.204288. https://pubmed.ncbi.nlm.nih.gov/36103249/
5. Haddad, Stephen A, Ruiz-Narváez, Edward A, Haiman, Christopher A, Palmer, Julie R, Lunetta, Kathryn L. 2016. An exome-wide analysis of low frequency and rare variants in relation to risk of breast cancer in African American Women: the AMBER Consortium. In Carcinogenesis, 37, 870-877. doi:10.1093/carcin/bgw067. https://pubmed.ncbi.nlm.nih.gov/27267999/