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新生儿枫糖尿症干血斑样本的探索性非靶向代谢组学研究。

Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease.

机构信息

Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, P.O. Box 22452, Riyadh 11652, Saudi Arabia.

Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia.

出版信息

Int J Mol Sci. 2024 May 24;25(11):5720. doi: 10.3390/ijms25115720.

DOI:10.3390/ijms25115720
PMID:38891907
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11171634/
Abstract

Currently, tandem mass spectrometry-based newborn screening (NBS), which examines targeted biomarkers, is the first approach used for the early detection of maple syrup urine disease (MSUD) in newborns, followed by confirmatory genetic mutation tests. However, these diagnostic approaches have limitations, demanding the development of additional tools for the diagnosis/screening of MUSD. Recently, untargeted metabolomics has been used to explore metabolic profiling and discover the potential biomarkers/pathways of inherited metabolic diseases. Thus, we aimed to discover a distinctive metabolic profile and biomarkers/pathways for MSUD newborns using untargeted metabolomics. Herein, untargeted metabolomics was used to analyze dried blood spot (DBS) samples from 22 MSUD and 22 healthy control newborns. Our data identified 210 altered endogenous metabolites in MSUD newborns and new potential MSUD biomarkers, particularly L-alloisoleucine, methionine, and lysoPI. In addition, the most impacted pathways in MSUD newborns were the ascorbate and aldarate pathways and pentose and glucuronate interconversions, suggesting that oxidative and detoxification events may occur in early life. Our approach leads to the identification of new potential biomarkers/pathways that could be used for the early diagnosis/screening of MSUD newborns but require further validation studies. Our untargeted metabolomics findings have undoubtedly added new insights to our understanding of the pathogenicity of MSUD, which helps us select the appropriate early treatments for better health outcomes.

摘要

目前，基于串联质谱的新生儿筛查（NBS）是用于早期检测枫糖尿症（MSUD）的首选方法，该方法检查靶向生物标志物，然后进行确认遗传突变测试。然而，这些诊断方法存在局限性，需要开发额外的工具来诊断/筛查 MUSD。最近，非靶向代谢组学已被用于探索代谢谱并发现遗传代谢疾病的潜在生物标志物/途径。因此，我们旨在使用非靶向代谢组学发现 MSUD 新生儿的独特代谢谱和生物标志物/途径。在此，我们使用非靶向代谢组学分析了 22 例 MSUD 新生儿和 22 例健康对照组新生儿的干血斑（DBS）样本。我们的数据在 MSUD 新生儿中鉴定出 210 种改变的内源性代谢物和新的潜在 MSUD 生物标志物，特别是 L-别异亮氨酸、蛋氨酸和溶血磷脂酰肌醇。此外，MSUD 新生儿中受影响最大的途径是抗坏血酸和醛酸途径以及戊糖和葡糖醛酸相互转化，表明氧化和解毒事件可能发生在生命早期。我们的方法可以识别新的潜在生物标志物/途径，可用于 MSUD 新生儿的早期诊断/筛查，但需要进一步的验证研究。我们的非靶向代谢组学研究结果无疑为我们理解 MSUD 的发病机制提供了新的见解，这有助于我们选择适当的早期治疗方法，以获得更好的健康结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87ea/11171634/14d0b6c7bfaa/ijms-25-05720-sch001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87ea/11171634/06402f08812e/ijms-25-05720-g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87ea/11171634/e7e1596956b6/ijms-25-05720-g003.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87ea/11171634/14d0b6c7bfaa/ijms-25-05720-sch001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87ea/11171634/06402f08812e/ijms-25-05720-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87ea/11171634/5a469f04fb0f/ijms-25-05720-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87ea/11171634/e7e1596956b6/ijms-25-05720-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87ea/11171634/438483560d2c/ijms-25-05720-g004.jpg
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