先天性巨指(趾)症蛋白质组学分析  

Proteomic analysis of congential macrodactyly

作　　者：张涛[1] 李建峰[1] 田光磊[2] 赵民[1] 刘井达[1] 赵亮[1] 李海雷[1] 张文桐[1] 李冬梅[1] 张志伟 王志梦 Zhang Tao;Li Jianfeng;Tian Guanglei;Zhao Min;Liu Jingda;Zhao Liang;Li Hailei;Zhang Wentong;Li Dongmei;Zhang Zhiwei;Wang Zhimeng(Department of Hand and Foot Surgery,Shunyi District Hospital,Beijing 101300,China;Department of Hand Surgery,Beijing Jishuitan Hospital,Beijing 100035,China)

机构地区：[1]北京市顺义区医院手足外科,北京101300 [2]北京积水潭医院手外科,北京100035

出　　处：《中华手外科杂志》2024年第6期546-550,共5页Chinese Journal of Hand Surgery

基　　金：第三届北京市顺义区卫生健康发展科研专项(Wsjkfzkyzx-2023-y-03)。

摘　　要：目的为定量分析巨指(趾)症患者蛋白质表达情况,并对差异蛋白进行生物信息学分析。方法选取我科自2018年6月至2021年3月收治的9例巨指(趾)症患者为实验组,3例多指(趾)患者为对照组,收集患者术中废弃组织标本,对上述两组标本进行蛋白质提取、结合DIA质谱分析技术对组织蛋白进行鉴定和定量检测,选取组间差异倍数大于1.5倍且差异具有统计学意义的蛋白为差异蛋白(P<0.05),并对差异表达蛋白进行生物信息学分析。结果共鉴定出2556个可定量蛋白,其中差异蛋白303个。其中上调差异表达蛋白95个,下调差异表达蛋白208个。差异蛋白主要参与核小体装配等生物学过程、行使核小体结合等分子功能。通路富集分析结果显示,差异蛋白主要参与了PI3K-Akt信号通路、脂肪细胞脂质分解调控等信号通路。蛋白质相互作用网络分析结果提示脂肪酸合成酶、血小板糖蛋白4、线粒体天冬氨酸转氨酶等参与脂质代谢调控的蛋白被筛选为核心蛋白。结论轮巨指(趾)症可能通过改变PI3K-Akt信号通路、脂肪脂质分解调控通路表达,引起巨指(趾)症患者脂肪的病理性增生。Objective To quantitatively analyze the protein expression in patients with macrodactyly and to conduct bioinformatics analysis of differential proteins.Methods Nine patients with macrodactyly admitted to our department from June 2018 to March 2021 were selected as the experimental group,and three patients with polydactyly were selected as the control group.The discarded tissue samples from patients during surgery were collected,and protein extraction was performed on the two groups of samples.DIA mass spectrometry analysis technology was used to identify and quantitatively detect tissue proteins.The proteins with differences greater than 1.5 times between groups and statistically significant differences were selected as differential proteins(P<0.05),and bioinformatics analysis was performed on differentially expressed proteins.Results A total of 2556 quantifiable proteins were identified,including 303 differentially expressed proteins.Among them,95 differentially expressed proteins were upregulated and 208 differentially expressed proteins were downregulated.Differential proteins mainly participated in biological processes such as nucleosome assembly and performed molecular functions such as nucleosome binding.The results of pathway enrichment analysis showed that differential proteins were mainly involved in the PI3K-Akt signaling pathway,regulation of lipid breakdown in adipocytes,and other signaling pathways.The results of protein-protein interaction network analysis indicated that proteins involved in lipid metabolism regulation,such as fatty acid synthase,platelet glycoprotein 4,and mitochondrial aspartate aminotransferase,had been screened as core proteins.Conclusion Macrodactyly may cause pathological proliferation of fat in patients with macrodactyly by altering the PI3K-Akt signaling pathway and regulating the expression of lipid breakdown pathways.

关 键 词：手畸形 足畸形 目巨指(趾) 蛋白质组学 

分 类 号：R658.2[医药卫生—外科学]