Amino acids have been of great interest in clinical studies since variation in their concentration may provide information about different disorders. For the first time, a non-separative method based on single quadrupole mass spectrometry (qMS) for the simultaneous semiquantitative determination of sixteen amino acids in saliva samples has been developed. The method includes derivatisation of amino acids with ethyl chloroformate-pyridine-ethanol to obtain volatile products, liquid-liquid extraction (LLE) and further analysis using a programmed temperature vaporizer (PTV) coupled to qMS. This method could be applied to the analysis of a great number of saliva samples, limiting the use of separative methods only when abnormal concentrations of amino acids were found, reducing analysis time and cost. The results obtained in the determination of amino acids using the non-separative method were compared to those obtained when a separative method based on gas chromatography (GC) was used, providing values of average relative predictive error (E %) ranging between 2 and 48%. Repeatability and reproducibility were tested, obtaining relative standard deviation (RSD) values equal to or lower than 11% and 16%, respectively. Detection limits were in the range of 0.076-8.747 mg L for the non-separative method.
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http://dx.doi.org/10.1016/j.talanta.2019.120381 | DOI Listing |
BMC Cancer
January 2025
Department of General Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Peking, Beijing, 100023, People's Republic of China.
Background: Pancreatic cancer is a highly aggressive neoplasm characterized by poor diagnosis. Amino acids play a prominent role in the occurrence and progression of pancreatic cancer as essential building blocks for protein synthesis and key regulators of cellular metabolism. Understanding the interplay between pancreatic cancer and amino acid metabolism offers potential avenues for improving patient clinical outcomes.
View Article and Find Full Text PDFNat Metab
January 2025
Fudan University Shanghai Cancer Center and Institutes of Biomedical Sciences; School of Basic Medical Sciences, Cancer Institutes; Key Laboratory of Breast Cancer in Shanghai; Shanghai Key Laboratory of Radiation Oncology; the Shanghai Key Laboratory of Medical Epigenetics, State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China.
Nutrient availability strongly affects intestinal homeostasis. Here, we report that low-protein (LP) diets decrease amino acids levels, impair the DNA damage response (DDR), cause DNA damage and exacerbate inflammation in intestinal tissues of male mice with inflammatory bowel disease (IBD). Intriguingly, loss of nuclear fragile X mental retardation-interacting protein 1 (NUFIP1) contributes to the amino acid deficiency-induced impairment of the DDR in vivo and in vitro and induces necroptosis-related spontaneous enteritis.
View Article and Find Full Text PDFMol Oncol
January 2025
Shanghai Stomatological Hospital & School of Stomatology & Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
Colorectal cancer (CRC) is a prevalent malignant tumor worldwide, with a high mortality rate due to its complex etiology and limited early screening techniques. This study aimed to identify potential biomarkers for early detection of CRC utilizing targeted metabolite profiling of platelet-rich plasma (PRP). Based on multiple reaction monitoring (MRM) mode, liquid chromatography tandem mass spectrometry (LC-MS/MS) analysis identified metabolites in PRP collected from patients with CRC (n = 70) and healthy controls (n = 30).
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Each human genome has approximately 5 million DNA variants. Even for complete loss-of-function variants causing inherited, monogenic diseases, current understanding based on gene-specific molecular function does not adequately predict variability observed between people with identical mutations or fluctuating disease trajectories. We present a parallel paradigm for loss-of-function variants based on broader consequences to the cell when aberrant polypeptide chains of amino acids are translated from mutant RNA to generate mutated proteins.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
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