目的 对孤独症和正常儿童进行血清代谢组学分析,找出特异性代谢产物,为孤独症的早期筛查诊断提供实验依据。方法 采用超高效液相色谱与四级杆飞行时间串联质谱仪联用技术(UPLC/Q-TOF MSMS)和模式识别方法,对孤独症儿童(n=73)和正常对照儿童(n=63)的血清进行代谢组学分析,找出与孤独症相关的特异性代谢产物。 结果 主成分分析得分图显示孤独症组和对照组形成明显的分类,说明孤独症血清代谢谱发生了明显改变,在正离子模式和负离子模式下共鉴定出14个潜在生物标志物。孤独症组的鞘脂类和溶血磷脂类物质明显增多,而多元不饱和脂肪酸(PUFAs)和脂酰肉毒碱明显减少。 结论 孤独症患儿和正常对照组在血清代谢水平上存在明显差异。此发现为找出孤独症诊断的潜在标志物提供了新的依据,并为孤独症的干预提供新的靶点。
Abstract
Objective To investigate the metabolite alterations in the serum of autistic children and normal children using metabolomics profiling,discover specific biomarkers of autistic children,and provide experimental evidence for the early screening and diagnosis of children with autism. Method Ultra performance liquid chromatography and Q-TOF mass spectrometry (UPLC/Q-TOF MSMS) and pattern recognition were used to the Metabolomic Profiling of autistic children(n=73)and normal children (n=63),in order to discover the special metabolites. Results There were significant differences in serum metabolites of the autism group and control group within a total of 14 biomarkers in the positive and negative mode.Lysophosphatidic and sphingolipids increased in the autism group;Acylcarnitine and PUFAs reduced in the autism group. Conclusion There are significant differences in serum metabolites of children with autism and normal children that help to provide a basis for discovering potential markers useful for autism diagnosis,and provide new targets for autism intervention.
关键词
UPLC/Q-TOF MSMS /
代谢组学 /
孤独症
Key words
UPLC/Q-TOF MSMS /
metabonomics /
autism
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基金
国家自然科学基金(81172682);国家自然科学基金(81072315);国家自然科学基金(81072298);卫生部公益性行业科研专项经费(201202010);国家重点基础研究发展计划项目(2012CB517900)
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