机构：[a]Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China[b]Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China[c]Research Center of Orthopedics/Rare Disease, Chinese Academy of Medical Sciences, Beijing, China[d]Tsinghua University Medical School, Beijing, China[e]Department of Pathology, Beijing Ditan Hospital, Capital Medical University, Beijing, China[f]Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China神经外科首都医科大学宣武医院[g]Department of Medical Genetics, Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China[h]Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China[i]Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
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.
基金：
the National Natural Science Foundation of China (81501852, 81472046, 81271942, 81130034, 81472045 and 81772301),
the Distinguished Youth Foundation of Peking Union Medical College Hospital (JQ201506),
Beijing Nova Program (Z161100004916123),
the Central Level Public Interest Program for Scientific Research Institute (2016ZX310177),
the PUMC Youth Fund & the Fundamental Research Funds for the Central Universities (3332016006)
the CAMS Initiative for Innovative Medicine (2016-I2M-3-003).
第一作者机构：[a]Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China[b]Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China
共同第一作者：
通讯作者：
通讯机构：[a]Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China[b]Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China[c]Research Center of Orthopedics/Rare Disease, Chinese Academy of Medical Sciences, Beijing, China[i]Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
推荐引用方式(GB/T 7714)：
Qiankun Zhu,Nan Wu,Gang Liu,et al.Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism[J].JOURNAL OF CELLULAR AND MOLECULAR MEDICINE.2018,22(1):533-545.doi:10.1111/jcmm.13341.
APA：
Qiankun Zhu,Nan Wu,Gang Liu,Yangzhong Zhou,Sen Liu...&Guixing Qiu.(2018).Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism.JOURNAL OF CELLULAR AND MOLECULAR MEDICINE,22,(1)
MLA：
Qiankun Zhu,et al."Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism".JOURNAL OF CELLULAR AND MOLECULAR MEDICINE 22..1(2018):533-545
