血浆脂质组学分析揭示了中链乙酰辅酶脱氢酶缺乏症患儿甘油三酯和磷脂谱的改变。

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Journal of Inherited Metabolic Disease Pub Date : 2024-02-14 DOI:10.1002/jimd.12718
Inês M. S. Guerra, Helena B. Ferreira, Tatiana Maurício, Marisa Pinho, Luísa Diogo, Sónia Moreira, Laura Goracci, Stefano Bonciarelli, Tânia Melo, Pedro Domingues, M. Rosário Domingues, Ana S. P. Moreira
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引用次数: 0

摘要

中链酰基-CoA脱氢酶缺乏症(MCADD)是最常见的线粒体脂肪酸β氧化障碍。在这项研究中,我们通过分析 25 名代谢控制型 MCADD 患儿(正常饮食、频繁喂养并补充左旋肉碱)和 21 名儿科对照受试者(CT)的血浆样本,评估了 MCADD 患者血脂谱的变异性。气相色谱-质谱法用于分析酯化脂肪酸,高分辨率 C18 液相色谱-质谱法用于分析脂质种类。我们共鉴定出 251 种脂质,分属 15 个不同的脂质类别。主成分分析表明,MCADD 组和 CT 组之间存在明显区别。单变量分析表明,两组之间有 126 种脂质存在显著差异。变化最明显的脂质包括三酰甘油和磷脂酰胆碱,它们含有饱和脂肪酸和单不饱和脂肪酸,特别是 C14:0 和 C16:0,在 MCADD 中含量更高。观察到的非失代偿型 MCADD 患儿血浆脂质体的变化表明,脂质代谢发生了潜在的改变。因此,有必要进行纵向监测和进一步的深入研究,以更好地了解这种改变是否是 MCADD 儿童特有的,以及其潜在的长期影响。
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Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium-Chain Acyl-CoA dehydrogenase deficiency

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most prevalent mitochondrial fatty acid β-oxidation disorder. In this study, we assessed the variability of the lipid profile in MCADD by analysing plasma samples obtained from 25 children with metabolically controlled MCADD (following a normal diet with frequent feeding and under l-carnitine supplementation) and 21 paediatric control subjects (CT). Gas chromatography–mass spectrometry was employed for the analysis of esterified fatty acids, while high-resolution C18-liquid chromatography-mass spectrometry was used to analyse lipid species. We identified a total of 251 lipid species belonging to 15 distinct lipid classes. Principal component analysis revealed a clear distinction between the MCADD and CT groups. Univariate analysis demonstrated that 126 lipid species exhibited significant differences between the two groups. The lipid species that displayed the most pronounced variations included triacylglycerols and phosphatidylcholines containing saturated and monounsaturated fatty acids, specifically C14:0 and C16:0, which were found to be more abundant in MCADD. The observed changes in the plasma lipidome of children with non-decompensated MCADD suggest an underlying alteration in lipid metabolism. Therefore, longitudinal monitoring and further in-depth investigations are warranted to better understand whether such alterations are specific to MCADD children and their potential long-term impacts.

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来源期刊
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease 医学-内分泌学与代谢
CiteScore
9.50
自引率
7.10%
发文量
117
审稿时长
4-8 weeks
期刊介绍: The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society''s annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field and non-peer- reviewed material that aims to be important, controversial, interesting or entertaining (“Extras”).
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