基因Flna编码一种称为filamin A的蛋白质,属于filamin家族,是一种重要的细胞骨架蛋白。Flna蛋白在细胞内扮演着多种角色,包括细胞形态维持、细胞运动、信号转导和细胞粘附。Flna蛋白与肌动蛋白纤维结合,形成细胞骨架结构,参与细胞骨架的动态调节和细胞形态的变化。此外,Flna蛋白还参与细胞内的信号转导过程,与多种信号通路相关,如Rho-GTPase信号通路、FAK信号通路等。Flna蛋白的突变或异常表达与多种疾病相关,包括遗传性心脏病、神经系统疾病和癌症等。
Flna基因突变与多种遗传性疾病相关,包括遗传性心脏病、神经系统疾病和癌症等。例如,Flna基因突变与遗传性心脏病中的胸主动脉瘤和动脉瘤相关,这可能与Flna蛋白在维持细胞骨架结构和细胞粘附功能中的作用有关[2]。此外,Flna基因突变还与神经系统疾病相关,如Periventricular nodular heterotopia (PNH),这是一种由于神经元异位导致的脑部畸形,患者常常伴随有癫痫发作[3,4]。在癌症研究中,Flna基因的表达和突变也与多种癌症的发生和进展相关。例如,在前列腺癌中,Flna基因的表达失调与肿瘤的发生和复发相关[1]。在甲状腺癌中,Flna基因的高表达与肿瘤的侵袭性和不良预后相关[5]。此外,Flna基因的表达还与胃癌的淋巴转移、临床分期和不良预后相关[6]。
Flna基因的突变和表达失调与多种疾病相关,包括遗传性心脏病、神经系统疾病和癌症等。Flna基因的突变可能导致Flna蛋白结构和功能的异常,进而影响细胞骨架的稳定性、细胞运动和信号转导等生物学过程。Flna基因的表达失调可能与细胞内的信号通路异常和细胞粘附功能的改变相关。因此,Flna基因的研究对于理解疾病的发病机制和寻找新的治疗靶点具有重要意义。
参考文献:
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2. Siddiqui, Safanah T, Fisher, Stacy D. 2022. Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm. In JACC. Case reports, 4, 87-90. doi:10.1016/j.jaccas.2021.11.019. https://pubmed.ncbi.nlm.nih.gov/35106490/
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4. Loft Nagel, Julie, Jønch, Aia Elise, Nguyen, Nina T T N, Bygum, Anette. 2022. Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature. In BMJ case reports, 15, . doi:10.1136/bcr-2021-247268. https://pubmed.ncbi.nlm.nih.gov/35414575/
5. Liang, Weiwei, Zhang, Yilin, Guo, Yan, Guan, Hongyu, Li, Yanbing. 2024. FLNA overexpression promotes papillary thyroid cancer aggression via the FAK/AKT signaling pathway. In Endocrine connections, 13, . doi:10.1530/EC-24-0034. https://pubmed.ncbi.nlm.nih.gov/38614124/
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