Metabolic Profiling Reveals Biochemical Pathways and Potential Biomarkers of Spinocerebellar Ataxia 3
文献类型：期刊论文
| 作者 | Yang, Zhi-hua1; Shi, Chang-he1; Zhou, Li-na2; Li, Yu-sheng1; Yang, Jing1; Liu, Yu-tao1; Mao, Cheng-yuan1; Luo, Hai-yang1; Xu, Guo-wang2; Xu, Yu-ming1 |
| 刊名 | FRONTIERS IN MOLECULAR NEUROSCIENCE
 |
| 出版日期 | 2019-06-27 |
| 卷号 | 12页码:10 |
| 关键词 | spinocerebellar ataxia 3 SCA3 metabolomics pathways biomarkers |
| ISSN号 | 1662-5099 |
| DOI | 10.3389/fnmol.2019.00159 |
| 通讯作者 | Xu, Guo-wang(xugw@dicp.ac.cn) ; Xu, Yu-ming(xuyuming@zzu.edu.cn) |
| 英文摘要 | Spinocerebellar ataxia 3, also known as Machado-Joseph disease (SCA3/MJD), is a rare autosomal-dominant neurodegenerative disease caused by an abnormal expansion of CAG repeats in the ATXN3 gene. In the present study, we performed a global metabolomic analysis to identify pathogenic biochemical pathways and novel biomarkers implicated in SCA3 patients. Metabolic profiling of serum samples from 13 preclinical SCA3 patients, 13 symptomatic SCA3 patients, and 15 healthy controls were mapped using ultra-high-performance liquid chromatography-mass spectrometry and gas chromatography-mass spectrometry techniques. The symptomatic SCA3 patients showed a metabolic profile significantly distinct from those of the preclinical SCA3 patients and healthy controls. The principal differential metabolites were involved in the amino acid (AA) metabolism and fatty acid metabolism pathways. In addition, four candidate serum biomarkers, FFA 16:1 (palmitoleic acid), FFA 18:3 (linolenic acid), L-Proline and L-Tryptophan, were selected to discriminate between symptomatic SCA3 patients and healthy controls by receiver operator curve analysis with an area under the curve of 0.979. Our study demonstrates that symptomatic SCA3 patients present distinct metabolic profiles with perturbed AA metabolism and fatty acid metabolism, and FFA 16:1, FFA 18:3, L-Proline and L-Tryptophan are identified as potential disease biomarkers. |
| WOS关键词 | DISEASE ; TYPE-3 ; SCA3 ; BRAIN ; BLOOD ; PATHOGENESIS ; FEATURES ; INSIGHT ; PROTEIN ; TRIAL |
| 资助项目 | National Key R&D Program of China[2017YFA0105000] ; National Natural Science Foundation of China[81771290] ; National Natural Science Foundation of China[81530037] ; National Natural Science Foundation of China[91849115] ; National Natural Science Foundation of China[21505132] ; National Natural Science Foundation of China[81472374] |
| WOS研究方向 | Neurosciences & Neurology |
| 语种 | 英语 |
| WOS记录号 | WOS:000473195000001 |
| 出版者 | FRONTIERS MEDIA SA |
| 资助机构 | National Key R&D Program of China ; National Key R&D Program of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Key R&D Program of China ; National Key R&D Program of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Key R&D Program of China ; National Key R&D Program of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Key R&D Program of China ; National Key R&D Program of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China |
| 源URL | [http://cas-ir.dicp.ac.cn/handle/321008/175092]  |
| 专题 | 大连化学物理研究所_中国科学院大连化学物理研究所 |
| 通讯作者 | Xu, Guo-wang; Xu, Yu-ming |
| 作者单位 | 1.Zhengzhou Univ, Affiliated Hosp 1, Dept Neurol, Zhengzhou, Henan, Peoples R China 2.Chinese Acad Sci, Dalian Inst Chem Phys, CAS Key Lab Separat Sci Analyt Chem, Dalian, Peoples R China |
| 推荐引用方式 GB/T 7714 | Yang, Zhi-hua,Shi, Chang-he,Zhou, Li-na,et al. Metabolic Profiling Reveals Biochemical Pathways and Potential Biomarkers of Spinocerebellar Ataxia 3[J]. FRONTIERS IN MOLECULAR NEUROSCIENCE,2019,12:10. |
| APA | Yang, Zhi-hua.,Shi, Chang-he.,Zhou, Li-na.,Li, Yu-sheng.,Yang, Jing.,...&Xu, Yu-ming.(2019).Metabolic Profiling Reveals Biochemical Pathways and Potential Biomarkers of Spinocerebellar Ataxia 3.FRONTIERS IN MOLECULAR NEUROSCIENCE,12,10. |
| MLA | Yang, Zhi-hua,et al."Metabolic Profiling Reveals Biochemical Pathways and Potential Biomarkers of Spinocerebellar Ataxia 3".FRONTIERS IN MOLECULAR NEUROSCIENCE 12(2019):10. |
入库方式： OAI收割
来源：大连化学物理研究所
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