Plasma metabolomic profiling reflects the malnourished and chronic inflammatory state in recessive dystrophic epidermolysis bullosa.

Autor: Chen YF; Department of Biotechnology and Bioindustry Sciences, College of Bioscience and Biotechnology, National Cheng Kung University, Tainan, Taiwan., Lu HC; Department of Nutritional Services, National Cheng Kung University Hospital, Tainan, Taiwan., Hou PC; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Lin YC; Department of Physical Medicine and Rehabilitation, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Physical Medicine and Rehabilitation, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Aala WJ; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Onoufriadis A; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK., McGrath JA; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK., Chen YL; Department of Biotechnology and Bioindustry Sciences, College of Bioscience and Biotechnology, National Cheng Kung University, Tainan, Taiwan. Electronic address: cyl0828@gs.ncku.edu.tw., Hsu CK; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan. Electronic address: kylehsu@mail.ncku.edu.tw.
Jazyk: angličtina
Zdroj: Journal of dermatological science [J Dermatol Sci] 2022 Aug; Vol. 107 (2), pp. 82-88. Date of Electronic Publication: 2022 Jul 13.
DOI: 10.1016/j.jdermsci.2022.07.006
Abstrakt: Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary blistering disorder characterized by skin fragility, chronic inflammation, malnutrition, and fibrosis. Metabolomics is an emerging investigative field that helps elucidate disease pathophysiology and identify biomarkers. However, previous metabolomic studies in RDEB are limited.
Objective: To investigate the plasma metabolomic profiles in RDEB patients.
Methods: We recruited 10 RDEB patients and 10 age-/gender-matched healthy controls. Peripheral blood samples were collected and plasma metabolomic profiling was performed by LC-MS/MS analysis. MS data processing and compound identification were executed by MS-DIAL. Enrichment analysis was performed by MetaboAnalyst 5.0.
Results: Metabolomic analyses demonstrated that most amino acid levels were downregulated in RDEB patients, and the extent of insufficiency correlated with clinical severity. Several metabolites were dysregulated in RDEB, including glutamine and glutamate metabolism, tryptophan-to-kynurenine ratio, phenylalanine-to-tyrosine ratio, and succinate accumulation.
Limitations: The study was limited by small case numbers and the unrepresentativeness of a single time-point blood sample.
Conclusion: Our study demonstrated the altered metabolomic profiles in RDEB, reflecting the disease severity, the chronic inflammatory and malnourished status, while the fibrotic signatures were not evident.
Competing Interests: Declaration of Competing Interest The authors have no conflict of interest to declare.
(Copyright © 2022 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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