Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots
Introduction:Galactosemia (GAL) is a genetic disorder that results in disturbances in galactose metabolism and can lead to life-threatening complications. However, the underlying pathophysiology of long-term complications in GAL remains poorly understood.Methods: In this study, a metabolomics approa...
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Frontiers Media S.A.
2023-04-01
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| Series: | Frontiers in Molecular Biosciences |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmolb.2023.1154149/full |
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| author | Ahmad N. Alodaib Ahmad N. Alodaib Refat M. Nimer Rowan Alhumaidy Alaa Alhenaky Mai Abdel Jabar Reem H. AlMalki Reem H. AlMalki Anas M. Abdel Rahman Anas M. Abdel Rahman |
| author_facet | Ahmad N. Alodaib Ahmad N. Alodaib Refat M. Nimer Rowan Alhumaidy Alaa Alhenaky Mai Abdel Jabar Reem H. AlMalki Reem H. AlMalki Anas M. Abdel Rahman Anas M. Abdel Rahman |
| author_sort | Ahmad N. Alodaib |
| collection | DOAJ |
| description | Introduction:Galactosemia (GAL) is a genetic disorder that results in disturbances in galactose metabolism and can lead to life-threatening complications. However, the underlying pathophysiology of long-term complications in GAL remains poorly understood.Methods: In this study, a metabolomics approach using ultra-performance liquid chromatography coupled with high-resolution mass spectrometry was used to investigate metabolomic changes in dried blood spots of 15 patients with GAL and 39 healthy individuals.Results: The study found that 2,819 metabolites underwent significant changes in patients with GAL compared to the control group. 480 human endogenous metabolites were identified, of which 209 and 271 were upregulated and downregulated, respectively. PA (8:0/LTE4) and ganglioside GT1c (d18:0/20:0) metabolites showed the most significant difference between GAL and the healthy group, with an area under the curve of 1 and 0.995, respectively. Additionally, the study identified potential biomarkers for GAL, such as 17-alpha-estradiol-3-glucuronide and 16-alpha-hydroxy DHEA 3-sulfatediphosphate.Conclusion: This metabolomics study deepened the understanding of the pathophysiology of GAL and presented potential biomarkers that might serve as prognostic biomarkers to monitor the progression or support the clinical diagnosis of GAL. |
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| format | Article |
| id | doaj.art-3979c55d10894baab3775bb8ccfe53a6 |
| institution | Directory Open Access Journal |
| issn | 2296-889X |
| language | English |
| last_indexed | 2024-04-09T19:41:53Z |
| publishDate | 2023-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Molecular Biosciences |
| spelling | doaj.art-3979c55d10894baab3775bb8ccfe53a62023-04-04T05:07:56ZengFrontiers Media S.A.Frontiers in Molecular Biosciences2296-889X2023-04-011010.3389/fmolb.2023.11541491154149Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spotsAhmad N. Alodaib0Ahmad N. Alodaib1Refat M. Nimer2Rowan Alhumaidy3Alaa Alhenaky4Mai Abdel Jabar5Reem H. AlMalki6Reem H. AlMalki7Anas M. Abdel Rahman8Anas M. Abdel Rahman9Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi ArabiaDepartment of Biochemistry and Molecular Medicine, College of Medicine, Al Faisal University, Riyadh, Saudi ArabiaDepartment of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, JordanMetabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi ArabiaMetabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi ArabiaMetabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi ArabiaMetabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi ArabiaDepartment of Botany and Microbiology, College of Science, King Saud University, Riyadh, Saudi ArabiaMetabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi ArabiaDepartment of Biochemistry and Molecular Medicine, College of Medicine, Al Faisal University, Riyadh, Saudi ArabiaIntroduction:Galactosemia (GAL) is a genetic disorder that results in disturbances in galactose metabolism and can lead to life-threatening complications. However, the underlying pathophysiology of long-term complications in GAL remains poorly understood.Methods: In this study, a metabolomics approach using ultra-performance liquid chromatography coupled with high-resolution mass spectrometry was used to investigate metabolomic changes in dried blood spots of 15 patients with GAL and 39 healthy individuals.Results: The study found that 2,819 metabolites underwent significant changes in patients with GAL compared to the control group. 480 human endogenous metabolites were identified, of which 209 and 271 were upregulated and downregulated, respectively. PA (8:0/LTE4) and ganglioside GT1c (d18:0/20:0) metabolites showed the most significant difference between GAL and the healthy group, with an area under the curve of 1 and 0.995, respectively. Additionally, the study identified potential biomarkers for GAL, such as 17-alpha-estradiol-3-glucuronide and 16-alpha-hydroxy DHEA 3-sulfatediphosphate.Conclusion: This metabolomics study deepened the understanding of the pathophysiology of GAL and presented potential biomarkers that might serve as prognostic biomarkers to monitor the progression or support the clinical diagnosis of GAL.https://www.frontiersin.org/articles/10.3389/fmolb.2023.1154149/fullbiomarkerdried blood spotgalactosemiametabolomicsnewborn screening (NBS)ultra-performance liquid chromatography |
| spellingShingle | Ahmad N. Alodaib Ahmad N. Alodaib Refat M. Nimer Rowan Alhumaidy Alaa Alhenaky Mai Abdel Jabar Reem H. AlMalki Reem H. AlMalki Anas M. Abdel Rahman Anas M. Abdel Rahman Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots Frontiers in Molecular Biosciences biomarker dried blood spot galactosemia metabolomics newborn screening (NBS) ultra-performance liquid chromatography |
| title | Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots |
| title_full | Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots |
| title_fullStr | Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots |
| title_full_unstemmed | Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots |
| title_short | Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots |
| title_sort | biomarker discovery in galactosemia metabolomics with uplc hrms in dried blood spots |
| topic | biomarker dried blood spot galactosemia metabolomics newborn screening (NBS) ultra-performance liquid chromatography |
| url | https://www.frontiersin.org/articles/10.3389/fmolb.2023.1154149/full |
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