Simultaneous quantification of 48 plasma amino acids by liquid chromatography-tandem mass spectrometry to investigate urea cycle disorders

Peng, Minzhi; Cai, Yamei; Shao, Youxiang; Li, Zhao; Jiang, Mao Fa; Lin, Yunting; Xi, Yin; Sheng, Huiying; Liu, Li

doi:10.1016/j.cca.2019.05.011

Cited by 16 publications

(8 citation statements)

References 38 publications

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“…Thus, the urea cycle is closely linked to the citric acid cycle, which derives one of its nitrogens from the transamination of oxaloacetate to form aspartate and returns fumarate to the cycle [25,26].It is reported that an LC-MS method was used to quantify amino acids to investigate urea cycle disorders. It discovered that urea cycle disorder not only disturbed the metabolism of amino acids involved in the urea cycle and induced the accumulation of ammonia detoxification, but also interfered with the metabolism of amino acids related to some nervous systems, such as pipecolic acid and N-acetylaspartic acid [27]. Our research was consistent with this study.…”

Section: Discussionsupporting

confidence: 90%

Establishment of the circadian metabolic phenotype strategy in spontaneously hypertensive rats: a dynamic metabolomics study

Wang

et al. 2020

J Transl Med

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Background: Circadian rhythms play a fundamental role in the progression of cardiovascular events. Almost all cardiovascular diseases have a circadian misalignment usually characterized by changes in metabolites. This study aimed to dynamically monitor rhythmic biomarkers, to elucidate the metabolic pathways that are potentially under circadian control in spontaneously hypertensive rats (SHRs), and to eventually establish a circadian metabolic phenotype strategy based on metabolomics. Methods: In this study, an untargeted metabolomics technology was used to dynamically monitor changes in serum metabolites between SHR model group and WKY control group. Liquid chromatography-mass spectrometry (LC-MS) combined with multivariate statistical analysis was applied to identify markers of hypertension rhythm imbalance. The concentrations of amino acids and their metabolites identified as markers were quantified by a subsequent targeted metabolomics analysis. Overall, these approaches comprehensively explored the rhythm mechanism and established a circadian metabolic phenotype strategy. Results: The metabolic profile revealed a disorder in the diurnal metabolism pattern in SHRs. Moreover, multivariate statistical analysis revealed metabolic markers of rhythm homeostasis, such as arginine, proline, phenylalanine, citric acid, l-malic acid, succinic acid, etc., accompanied by an imbalance in hypertension. The key metabolic pathways related to rhythm imbalance in hypertension were found by enrichment analysis, including amino acid metabolism, and the tricarboxylic acid cycle (TCA). In addition, the quantitative analysis of amino acids and their metabolites showed that the changes in leucine, isoleucine, valine, taurine, serine, and glycine were the most obvious. Conclusions: In summary, this study illustrated the relationship between metabolites and the pathways across time on hypertension. These results may provide a theoretical basis for personalized treatment programmes and timing for hypertension.

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Section: Discussionsupporting

confidence: 90%

Establishment of the circadian metabolic phenotype strategy in spontaneously hypertensive rats: a dynamic metabolomics study

Wang

et al. 2020

J Transl Med

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“…Thus, we recommend estimating new reference values for each validated method and checking the extent of the discrepancy. Our calculated reference values were comparable to those previously published in LCMSMS methods 6,32,36,38,41 whatever the age class. We also confirmed the evolution of AA concentrations over the first years of life.…”

Section: Reference Valuessupporting

confidence: 88%

Validation of plasma amino acid profile using UHPLC-mass spectrometer (QDa) as a screening method in a metabolic disorders reference centre: Performance and accreditation concerns

Bruno

Veyrat-Durebex

Lukuntonda

et al. 2021

Clinical Biochemistry

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“…Quanti cation of folates intermediates and avins (FAD, avin mononucleotide (FMN) and ribo avin (Rf)) in mitochondria or embryos homogenates were obtained by an LC-MS/MS system (Shimadzu Ultrahigh Pressure Nexera chromatograph system (Kyoto, Japan) interfaced to a Sciex QTRAP 5500 + mass spectrometer (AB Sciex LLC, Framingham, MA, USA)) according to the published protocols [14,15]. Analysis of acylcarnitine, amino acids, organic acids, DMG, and formate in tissues was carried out according to the published protocols by using the LC-MS/MS system (Shimadzu Ultrahigh Pressure Nexera chromatograph system interfaced to an AB Sciex 3200 Q TRAP mass spectrometer (Foster City, CA, USA)) [16][17][18][19], or a gas chromatography-mass spectrometry system (GC-MS, Agilent 5975GC-4890MS, USA) [20].…”

Section: Metabolites Analysismentioning

confidence: 99%

Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism

Peng

Shao

et al. 2022

Cell. Mol. Life Sci.

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The SLC25A32 dysfunction is associated with neural tube defects (NTDs) and exercise intolerance, but very little is known about disease speci c mechanisms due to a paucity of animal models. Here, we generated homozygous (Slc25a32 Y174C/Y174C and Slc25a32 K235R/K235R ) and compound heterozygous (Slc25a32 Y174C/K235R ) knock-in mice by mimicking the missense mutations identi ed from our patient. A homozygous knock-out (Slc25a32 -/-) mouse was also generated. The Slc25a32 K235R/K235R and Slc25a32 Y174C/K235R mice presented with mild motor impairment and recapitulated the biochemical disturbances of the patient. While Slc25a32 -/mice die in utero with NTDs. All Slc25a32 mutations did not hinder the mitochondrial uptake of folates but speci cally blocked the uptake of avin adenine dinucleotide (FAD). A positive correlation between SLC25A32 dysfunction and avoenzyme de ciency was observed. Besides the avoenzymes involved in fatty acid β-oxidation and amino acid metabolism impaired, Slc25a32 -/embryos still had a subunit of glycine cleavage systemdihydrolipoamide dehydrogenase damaged, resulting in glycine accumulation and glycine derived-formate reduction, which further disturbed folate-mediated one-carbon metabolism, leading to 5-methyltetrahydrofolate shortage and other folate intermediates accumulated. Maternal formate supplementation increased the 5-methyltetrahydrofolate levels and ameliorated the NTDs in Slc25a32 -/embryos. The Slc25a32 K235R/K235R mice had no glycine oxidation defect but had another formate donor-choline metabolism interrupted and mitochondrial folates de cient. Formate supplementation increased mitochondrial folates amounts of mice, but this effect was not restricted to the Slc25a32 mutant mice. In summary, we established novel animal models, which enabled us to better understand the function of SLC25A32 and to elucidate the role of SLC25A32 dysfunction in human disease development and progression.

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Simultaneous quantification of 48 plasma amino acids by liquid chromatography-tandem mass spectrometry to investigate urea cycle disorders

Cited by 16 publications

References 38 publications

Establishment of the circadian metabolic phenotype strategy in spontaneously hypertensive rats: a dynamic metabolomics study

Establishment of the circadian metabolic phenotype strategy in spontaneously hypertensive rats: a dynamic metabolomics study

Validation of plasma amino acid profile using UHPLC-mass spectrometer (QDa) as a screening method in a metabolic disorders reference centre: Performance and accreditation concerns

Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism

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