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Fibroblast-specific...
Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease
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- Wegrzyn, Agnieszka B. (författare)
- University Medical Center Groningen,Leiden University
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- Herzog, Katharina (författare)
- Lund University,Lunds universitet,Centrum för analys och syntes,Kemiska institutionen,Institutioner vid LTH,Lunds Tekniska Högskola,Centre for Analysis and Synthesis,Department of Chemistry,Departments at LTH,Faculty of Engineering, LTH,Academic Medical Center of University of Amsterdam (AMC)
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- Gerding, Albert (författare)
- University Medical Center Groningen
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- Kwiatkowski, Marcel (författare)
- University of Innsbruck,University of Groningen
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- Wolters, Justina C. (författare)
- University Medical Center Groningen
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- Dolga, Amalia M. (författare)
- University of Groningen
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- van Lint, Alida E.M. (författare)
- Academic Medical Center of University of Amsterdam (AMC)
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- Wanders, Ronald J.A. (författare)
- Academic Medical Center of University of Amsterdam (AMC)
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- Waterham, Hans R. (författare)
- Academic Medical Center of University of Amsterdam (AMC)
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- Bakker, Barbara M. (författare)
- University Medical Center Groningen
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(creator_code:org_t)
- 2020-03-31
- 2020
- Engelska 18 s.
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Ingår i: The FEBS Journal. - : Wiley. - 1742-464X .- 1742-4658. ; 287:23, s. 5096-5113
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http://dx.doi.org/10... (free)
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https://febs.onlinel...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Refsum disease (RD) is an inborn error of metabolism that is characterised by a defect in peroxisomal α-oxidation of the branched-chain fatty acid phytanic acid. The disorder presents with late-onset progressive retinitis pigmentosa and polyneuropathy and can be diagnosed biochemically by elevated levels of phytanate in plasma and tissues of patients. To date, no cure exists for RD, but phytanate levels in patients can be reduced by plasmapheresis and a strict diet. In this study, we reconstructed a fibroblast-specific genome-scale model based on the recently published, FAD-curated model, based on Recon3D reconstruction. We used transcriptomics (available via GEO database with identifier GSE138379), metabolomics and proteomics (available via ProteomeXchange with identifier PXD015518) data, which we obtained from healthy controls and RD patient fibroblasts incubated with phytol, a precursor of phytanic acid. Our model correctly represents the metabolism of phytanate and displays fibroblast-specific metabolic functions. Using this model, we investigated the metabolic phenotype of RD at the genome scale, and we studied the effect of phytanate on cell metabolism. We identified 53 metabolites that were predicted to discriminate between healthy and RD patients, several of which with a link to amino acid metabolism. Ultimately, these insights in metabolic changes may provide leads for pathophysiology and therapy. Databases: Transcriptomics data are available via GEO database with identifier GSE138379, and proteomics data are available via ProteomeXchange with identifier PXD015518.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- amino acids
- fibroblast
- genome-scale modelling
- metabolism
- Refsum disease
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Wegrzyn, Agniesz ...
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Herzog, Katharin ...
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Gerding, Albert
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Kwiatkowski, Mar ...
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Wolters, Justina ...
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Dolga, Amalia M.
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visa fler...
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van Lint, Alida ...
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Wanders, Ronald ...
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Waterham, Hans R ...
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Bakker, Barbara ...
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visa färre...
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och Klinisk medicin
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