文献类型： 外文期刊

作者： Chen, Weijun ¹ ; Yang, Yang ² ; Zhang, Yu ⁴ ; Sun, Changxuan ⁵ ; Ji, Chai ¹ ; Shen, Jiyang ¹ ; Li, Fangfang ¹ ; Xiao, Yingping ⁶ ; Wen, Yang ⁶ ; Liu, Qian ⁷ ; Zou, Chaochun ⁸ ;

作者机构： 1.Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Sch Med,Dept Child Hlth Care, 3333 Binsheng Rd, Hangzhou 310052, Zhejiang, Peoples R China

2.Kunming Med Univ, Yunnan Prov Key Lab Publ Hlth & Biosafety, Kunming 650500, Peoples R China

3.Kunming Med Univ, Sch Publ Hlth, Kunming 650500, Peoples R China

4.Zhejiang Biosan Biochem Technol Co Ltd, R&D Dept, 859 Shixiang West Rd, Hangzhou 310007, Zhejiang, Peoples R China

5.Soochow Univ, Suzhou Dushu Lake Hosp, Affiliated Hosp 4, Med Ctr, Suzhou 215123, Jiangshu, Peoples R China

6.Zhejiang Acad Agr Sci, Inst Agroprod Safety & Nutr, State Key Lab Managing Biot & Chem Threats Qual &, Hangzhou, Peoples R China

7.Zhejiang Biosan Biochem Technol Co Ltd, Med Dept, 859 Shixiang West Rd, Hangzhou 310007, Zhejiang, Peoples R China

8.Zhejiang Univ, Childrens Hosp, Natl Childrens Reg Med Ctr, Natl Clin Res Ctr Child Hlth,Sch Med, 3333 Binsheng Rd, Hangzhou 310052, Zhejiang, Peoples R China

关键词： Williams Syndrome; Targeted metabolomics; Long-chain saturated fatty acids (LC-SFAs); Docosahexaenoic acid (DHA); Arachidonic acid (ARA); Amino acids

期刊名称：SCIENTIFIC REPORTS （ 影响因子：3.9； 五年影响因子：4.3 ）

ISSN： 2045-2322

年卷期： 2024 年 14 卷 1 期

页码：

收录情况： SCI

摘要： Williams Syndrome (WS) is a rare neurodevelopmental disorder with a prevalence of 1 in 7500 to 1 in 20,000 individuals, caused by a microdeletion in chromosome 7q11.23. Despite its distinctive clinical features, the underlying metabolic alterations remain largely unexplored. This study employs targeted metabolomics to investigate the metabolic characteristics of children with WS. Using liquid chromatography-tandem mass spectrometry (LC-MS/MS), we identified significant dysregulation of 15 metabolites, with 11 upregulated and 4 downregulated. Notably, amino acids such as alanine, proline, and arginine were significantly elevated. Fatty acid metabolism showed pronounced upregulation of long-chain saturated fatty acids (C18:0, C20:0, C22:0, C24:0, C26:0, and C28:0) and downregulation of long-chain unsaturated fatty acids (C18:2 LA, C22:6 DHA, C16:1 PLA, and t-C18:1 EA), except for upregulated nervonic acid (C24:1) and arachidonic acid (C20:4). Metabolic pathway analysis highlighted disruptions in arginine synthesis, arginine/proline metabolism, alanine, aspartate and glutamate metabolism, biosynthesis of unsaturated fatty acids, linoleic acid metabolism, and arachidonic acid metabolism. This study provides the first comprehensive analysis of amino acid and fatty acid metabolism in children with WS, offering insights into the disorder's complex metabolic landscape. Further validation in larger cohorts is essential to confirm these findings and their potential as biomarkers and therapeutic targets.