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Metabolomics analysis for diagnosis and biomarker discovery of transthyretin amyloidosis
Umeå University, Faculty of Medicine, Wallenberg Centre for Molecular Medicine at Umeå University (WCMM). Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Section of Medicine.
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Section of Medicine.ORCID iD: 0000-0002-3822-0725
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Section of Medicine.ORCID iD: 0000-0002-1536-1277
Umeå University, Faculty of Medicine, Wallenberg Centre for Molecular Medicine at Umeå University (WCMM). Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Section of Medicine.ORCID iD: 0000-0003-2874-7643
2021 (English)In: Amyloid: Journal of Protein Folding Disorders, ISSN 1350-6129, E-ISSN 1744-2818, Vol. 28, no 4, p. 234-242Article in journal (Refereed) Published
Abstract [en]

Untargeted metabolomics is a well-established technique and a powerful tool to find potential plasma biomarkers for early diagnosing hereditary transthyretin amyloidosis. Hereditary transthyretin amyloidosis (ATTRv) is a disabling and fatal disease with different clinical features such as polyneuropathy, cardiomyopathy, different gastrointestinal symptoms and renal failure. Plasma specimens collected from 27 patients with ATTRv (ATTRV30M), 26 asymptomatic TTRV30M carriers and 26 control individuals were subjected to gas chromatography (GC)- and liquid chromatography (LC)-mass spectrometry (MS)-based metabolomics analysis. Partial least squares discriminant and univariate analysis was used to analyse the data. The models constructed by Partial least squares-discriminant analysis (PLS-DA) could clearly discriminate ATTRV30M patients from controls and asymptomatic TTRV30M carriers. In total, 24 plasma metabolites (VIP > 1.0 and p <.05) were significantly altered in ATTRV30M patient group (6 increased and 18 decreased). Eleven of these distinguished the ATTRV30M group from both controls and TTRV30M carriers. Plasma metabolomics analysis revealed marked changes in several pathways in patients with ATTRV30M amyloidosis. Statistical analysis identified a panel of biomarkers that could effectively separate controls/TTRV30M carriers from ATTRV30M patients. These biomarkers can potentially be used to diagnose patients at an early stage of the disease.

Place, publisher, year, edition, pages
Taylor & Francis Group, 2021. Vol. 28, no 4, p. 234-242
Keywords [en]
Amyloidosis, biomarker, hereditary, mass spectrometry, metabolomics, transthyretin
National Category
Other Basic Medicine Gastroenterology and Hepatology
Identifiers
URN: urn:nbn:se:umu:diva-186540DOI: 10.1080/13506129.2021.1958775ISI: 000678456100001Scopus ID: 2-s2.0-85111696674OAI: oai:DiVA.org:umu-186540DiVA, id: diva2:1586890
Available from: 2021-08-23 Created: 2021-08-23 Last updated: 2022-07-14Bibliographically approved

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Olsson, MalinHellman, UrbanWixner, JonasAnan, Intissar

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Amyloid: Journal of Protein Folding Disorders
Other Basic MedicineGastroenterology and Hepatology

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