دورية أكاديمية
أعرض في EDS

Metabolomic and lipidomic characterization of an X-chromosome deletion disorder in neural progenitor cells by UHPLC-HRMS.

التفاصيل البيبلوغرافية
العنوان: Metabolomic and lipidomic characterization of an X-chromosome deletion disorder in neural progenitor cells by UHPLC-HRMS.
المؤلفون: Yazd HS; Department of Chemistry, University of Florida, Gainesville, FL 32610, USA., Rubio VY; Department of Chemistry, University of Florida, Gainesville, FL 32610, USA.; Department of Chemistry & Biochemistry, University of North Carolina at Greensboro, Greensboro, NC 27412, USA., Chamberlain CA; Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL 32610, USA.; Department of Chemistry, Washington University in St. Louis, St. Louis, MO 63130, USA., Yost RA; Department of Chemistry, University of Florida, Gainesville, FL 32610, USA., Garrett TJ; Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL 32610, USA.
المصدر: Journal of mass spectrometry and advances in the clinical lab [J Mass Spectrom Adv Clin Lab] 2021 May 29; Vol. 20, pp. 11-24. Date of Electronic Publication: 2021 May 29 (Print Publication: 2021).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101776811 Publication Model: eCollection Cited Medium: Internet ISSN: 2667-145X (Electronic) Linking ISSN: 2667145X NLM ISO Abbreviation: J Mass Spectrom Adv Clin Lab Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [Amsterdam] : Elsevier B.V., [2021]-
مستخلص: Introduction: Intellectual disorders involving deletions of the X chromosome present a difficult task in the determination of a connection between symptoms and metabolites that could lead to treatment options. One specific disorder of X-chromosomal deletion, Fragile X syndrome, is the most frequently occurring of intellectual disabilities. Previous metabolomic studies have been limited to mouse models that may not have sufficiently revealed the full biochemical diversity of the disease in humans.
Objectives: The primary objective of this study was to elucidate the human biochemistry in X-chromosomal deletion disorders through metabolomic and lipidomic profiling, using cells from a X-deletion patient as a representative case.
Methods: Metabolomic and lipidomic analysis was performed by UHPLC-HRMS on neural progenitor (NP) cells isolated from an afflicted female patient versus normal neural progenitor cells.
Results: Results showed perturbations in several metabolic pathways, including those of arginine and proline, that significantly impact both neurotransmitter generation and overall brain function. Coincidently, dysregulation was observed for lipids involved in both cellular structure and membrane integrity. The trends of observed metabolomic changes, as well as lipidomic profiling from identified features, are discussed.
Conclusion: The lipidomic and metabolomic profiles of NP cell samples exhibited significant differentiation associated with partial deletion of the X chromosome. These findings suggest that rare X-chromosomal deletion disorders are not only a mental disorder limited to alterations in local neuronal functions, but are also metabolic diseases.
(© 2021 THE AUTHORS. Publishing services by ELSEVIER B.V. on behalf of MSACL.)
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فهرسة مساهمة: Keywords: BMP, Bis(monoacylglycero) phosphate; Cer-NS, Ceramide nonhydroxyfatty acid-sphingosines; Fragile X syndrome; GL, Glycerolipid; HexCer-NS, Hexosylceramide nonhydroxyfatty acid-sphingosines; LPC, Lysophosphatidylcholines; Lipidomics; Metabolomics; Microdeletion; PC, Phosphatidylcholine; PE, Phosphatidylethanolamine; PG, Phosphatidylglycerol; SM, Sphingomyelin; SP, Sphingolipid; ST, Sterol; Xq27.3-Xq28
تواريخ الأحداث: Date Created: 20211125 Latest Revision: 20240404
رمز التحديث: 20240404
مُعرف محوري في PubMed: PMC8601009
DOI: 10.1016/j.jmsacl.2021.05.002
PMID: 34820667
قاعدة البيانات: MEDLINE
الوصف
تدمد:2667-145X
DOI:10.1016/j.jmsacl.2021.05.002