Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism.
Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism.
复制标题
TBX6单倍体不足的先天性脊柱侧凸患者血清蛋白质组的比较分析——第一份指向脂质代谢的报告
DOI：
10.1111/jcmm.13341
复制
发表时间：
2018-01
影响因子：
5.3
通讯作者：
Qiu G
中科院分区：
文献类型：
--
作者：
Zhu Q;Wu N;Liu G;Zhou Y;Liu S;Chen J;Liu J;Zuo Y;Liu Z;Chen W;Chen Y;Chen J;Lin M;Zhao Y;Yang Y;Wang S;Yang X;Ma Y;Wang J;Chen X;Zhang J;Shen J;Wu Z;Qiu G
先天性脊柱侧凸（CS）是一种影响生活质量的三维脊柱畸形。我们已经证明 TBX6 单倍体不足是 CS 的最重要贡献者。然而，蛋白质水平的病理生理学仍不清楚。因此，本研究旨在探讨TBX6单倍体不足的CS患者血清中的差异蛋白质组。收集了 9 名 TBX6 单倍体不足的 CS 患者和 9 名年龄和性别匹配的健康对照者的血清，并通过同量异位标记相对和绝对定量 (iTRAQ) 标记结合质谱 (MS) 进行分析。总共检测到277个蛋白，其中20个蛋白被指定为差异表达蛋白，并提交后续的生物信息学分析。基因本体分类分析表明，生物过程主要与“细胞过程”、分子功能“结构分子活性”和细胞成分“细胞外区域”相关。 IPA 分析显示“LXR/RXR 激活”是最重要的途径，这是脂质代谢的关键途径。层次聚类分析生成了两个聚类。总之，本研究是第一个描述 TBX6 单倍体不足引起的 CS 中总血清蛋白和差异血清蛋白的蛋白质组学研究。本实验中发现的蛋白质可能作为CS的潜在生物标志物，脂质代谢可能在CS的发病机制中发挥重要作用。
Congenital scoliosis (CS) is a three‐dimensional deformity of the spine affecting quality of life. We have demonstrated TBX6 haploinsufficiency is the most important contributor to CS. However, the pathophysiology at the protein level remains unclear. Therefore, this study was to explore the differential proteome in serum of CS patients with TBX6 haploinsufficiency. Sera from nine CS patients with TBX6 haploinsufficiency and nine age‐ and gender‐matched healthy controls were collected and analysed by isobaric tagged relative and absolute quantification (iTRAQ) labelling coupled with mass spectrometry (MS). In total, 277 proteins were detected and 20 proteins were designated as differentially expressed proteins, which were submitted to subsequent bioinformatics analysis. Gene Ontology classification analysis showed the biological process was primarily related to ‘cellular process’, molecular function ‘structural molecule activity’ and cellular component ‘extracellular region’. IPA analysis revealed ‘LXR/RXR activation’ was the top pathway, which is a crucial pathway in lipid metabolism. Hierarchical clustering analysis generated two clusters. In summary, this study is the first proteomic research to delineate the total and differential serum proteins in TBX6 haploinsufficiency‐caused CS. The proteins discovered in this experiment may serve as potential biomarkers for CS, and lipid metabolism might play important roles in the pathogenesis of CS.
登录
查看更多内容
影响因子：
3.2
作者：
Giampietro PF
通讯作者：
Giampietro PF
DOI：
10.1016/j.gep.2009.04.002
发表时间：
2009-06
期刊：
Gene expression patterns : GEP
影响因子：
--
作者：
Danesh SM;Villasenor A;Chong D;Soukup C;Cleaver O
通讯作者：
Cleaver O
DOI：
10.1016/j.biocel.2008.02.011
发表时间：
2009-03-01
影响因子：
4
作者：
Assinder, Stephen J.;Stanton, Jo-Ann L.;Prasad, Priya D.
通讯作者：
Prasad, Priya D.
影响因子：
2.5
作者：
Hakobyan, S;Boyajyan, A;Sim, RB
通讯作者：
Sim, RB
TBX6基因在先天性椎体畸形中的研究进展与展望
影响因子：
--
作者：
Chen W;Liu J;Yuan D;Zuo Y;Liu Z;Liu S;Zhu Q;Qiu G;Huang S;Giampietro PF;Zhang F;Wu N;Wu Z
通讯作者：
Wu Z