Method for measurement of peroxisomal very-long-chain fatty acid β-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid
Abstract
Peroxisomes are present in virtually every eukaryotic cell type except the mature erythrocyte. In higher eukaryotes, one of the main functions of peroxisomes is the β-oxidation of very-long-chain fatty acids (VLCFA; > 22 carbon atoms) (1). The importance of peroxisomal β-oxidation is emphasized by the existence of a variety of different diseases in which peroxisomal β-oxidation is impaired and VLCFA concentrations are increased (1)(2)(3)(4). Peroxisomal disorders can be categorized as (a) single peroxisomal enzyme deficiencies, including X-linked adrenoleukodystrophy (X-ALD) and disorders attributable to defects in one of the peroxisomal β-oxidation enzymes, such as acyl-CoA oxidase (AOX) deficiency and bifunctional protein (DBP) deficiency; and (b) disorders attributable to defects in peroxisome biogenesis. The peroxisome biogenesis disorders (PBDs) represent a continuum of clinical features ranging from the most severe form, Zellweger syndrome, through neonatal adrenoleukodystrophy to the least severe form, infantile Refsum disease. Currently, measurement of the peroxisomal fatty acid β-oxidation activity is performed with 1-[14C]-radiolabeled VLCFA substrates and one of two available methods: either in intact human skin fibroblasts cultured in monolayer (5); or in isolated fibroblasts permeabilized with digitonin (6). We investigated the feasibility of using deuterium-labeled tetracosanoic acid (D3-C24:0) as an alternative substrate to radiolabeled 1-[14C]-labeled C24:0 for the measurement of peroxisomal β-oxidation activity in cultured primary human skin fibroblasts. Before use, the purity of 24,24,24-D3-C24:0 (Larodan Fine Chemicals AB) was determined. The D3-C24:0 substrate contained ∼6% deuterium-labeled octadecanoic acid (D3-C18:0). Acetone was used to purify D3-C24:0 according to the following procedure: 4 mL of acetone was added to 20 mg of D3-C24:0. The sample was vortex-mixed vigorously, left at room temperature for 30 min, and centrifuged at 1600g for 10 min; approximately 80% of the acetone was then removed, and 3 mL of fresh acetone was added. This procedure was repeated two more times. After three washing steps with acetone, ∼80% of the acetone was removed, and the remaining acetone was evaporated at room temperature under a constant stream of nitrogen. The residue was weighed, and a stock solution of 10 mmol/L D3-C24:0 in absolute ethanol was prepared. After purification, the purity of D3-C24:0 was analyzed, and the contribution of the D3-C18:0 contaminant was determined to be <0.2%. Fibroblasts from healthy controls and patients with X-ALD were cultured in the absence or presence of 20 μmol/L D3-C24:0 in HAM-F10 tissue culture medium supplemented with 100 mL/L fetal calf serum, penicillin (100 IU/mL), streptomycin (100 IU/mL), and glutamine (2 mmol/L). Before usage, the D3-C24:0 stock solution was put in a water bath for 5 min, vortex-mixed, and diluted in HAM-F10 tissue culture medium to a final concentration of 20 μmol/L. Cells were used between passage numbers 6 and 18. For fatty acid analysis, cells were harvested with trypsin, washed twice with phosphate-buffered saline (PBS) and once with 9 g/L NaCl, dissolved in 200 μL of deionized water, and sonicated, and the protein concentration was determined. The peroxisomal β-oxidation activity was calculated by measurement of the amount of intracellular deterium-labeled hexadecanoic acid (D3-C16:0) present in nmol/mg of protein. In our method we chose D3-C16:0 as a marker for peroxisomal β-oxidation because of the availability of a D3-C16:0 internal standard, which enabled accurate calculation of the amount of D3-C16:0 present in the cells. Fatty acids were analyzed by electrospray ionization mass spectrometry using a recently described isotope-dilution method (7). For calculation of the amount of D3-C16:0, we constructed a five-point calibration curve. Of a calibration mixture containing D3-C16:0 (40 μmol/L), we added 0, 25, 50, 100, and 200 μL to 100 μL of internal standard containing deuterium-labeled behenic acid (D4-C22:0; 50.0 μmol/L), D4-C24:0 (50.0 μmol/L), and deuterium-labeled hexacosanoic acid (D4-C26:0; 1.0 μmol/L). Samples were extracted and analyzed as described previously (7). The input concentration of D3-C16:0 (in nmol) was plotted against the ratio of the peak height of D3-C16:0 to the peak height of the D4-C22:0 internal standard. The trend line and the intercept were used to calculate the D3-C16:0 concentration in the samples. The effect of incubation time on the production of D3-C16:0 from D3-C24:0 in fibroblasts from healthy individuals and patients with X-ALD is shown in Fig. 1 . At all time points investigated, the amount of D3-C16:0 in the X-ALD cell lines was markedly lower than that in the control cell lines. Because D3-C16:0 is an intermediate of peroxisomal β-oxidation and not an end product, the amount of D3-C16:0 measured in the cells at the different time points reflects the flux through the β-oxidation pathwa
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Residual peroxisomal β-oxidation of VLCFA is approximately 20% of normal in X-ALD fibroblasts and can be restored by ABCD2 or ABCD3 overexpression.
“Consistently, the residual peroxisomal β-oxidation of VLCFA is ~20% of normal in X-ALD fibroblasts [150,151] and can be restored by ABCD2 or ABCD3 overexpression [152,153].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [151]
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“In a D3-C22:0 loading test (32) increased D3-C26:0 was detected, while D3-C16:0 levels remained the same, resulting in a significant decrease in the D3-C16:0/D3-C26:0 ratio (Fig.”
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“Peroxisomal VLCFA b-oxidation Assay The method was carried out as described by Kemp et al [18] except that fibroblasts from healthy controls and patients with XALD were cultured in the absence or presence of 15 umol/L D3C22:0 for 72 h.”
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“Defects in ABCD1 leads to impaired peroxisomal beta-oxidation of VLCFAs, which is reduced to about 30% of control levels [8-10] in XALD patients.”
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“This metabolic disease results in impaired β-oxidation of a very long chain fatty acids (VLCFA), which are plasma biomarkers useful for the diagnostic [7, 8].”
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- Authors
- Kemp, S., Valianpour, F., Mooyer, P. A. W., Kulik, W., & Wanders, R. J. A.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Corresponding author
- Kemp, Stephan
- Venue
- Clinical Chemistry
- Publisher
- Oxford University Press (OUP)
- Published
- 2004-10-01
- Volume
- 50
- Issue
- 10
- Pages
- 1824-1826
- ISSN
- 0009-9147 (ISSN-L)
- 1530-8561
- OpenAlex
- W2151851024
- Semantic Scholar
- 089169bc1a34e01cbd03c181f4f2c7e4edbdb067
- Cited by
- 40
- References
- 13
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 5 · 2023: 2 · 2021: 2 · 2020: 1 · 2017: 3 · 2016: 7 · 2014: 4 · 2013: 3 · 2012: 4
- FWCI
- 0.70
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
- Locations
- Clinical Chemistry (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Funders
- European Commission
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek
- Association Européenne contre les Leucodystrophies
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Peroxisome Proliferator-Activated Receptors
- Keywords
- peroxisomal beta-oxidation, very long chain fatty acids, tetracosanoic acid, stable isotope labeling, human dermal fibroblasts, peroxisomal disorders, peroxisome biogenesis disorders, X-linked adrenoleukodystrophy
- MeSH terms
- Adrenoleukodystrophy, Deuterium, Fatty Acids, Feasibility Studies, Fibroblasts, Humans, Isotope Labeling, Oxidation-Reduction, Skin, Peroxisomes, Spectrometry, Mass, Electrospray Ionization
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