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Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype

Matthias Van Gils, Justin Depauw, Paul Coucke (UGent) , Shari Aerts (UGent) , Shana Verschuere, Lukas Nollet (UGent) and Olivier Vanakker (UGent)
(2023) JOURNAL OF CLINICAL MEDICINE. 12(5).
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Abstract
Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification disorder affecting soft connective tissues that is caused by biallelic ABCC6 mutations. While the underlying pathomechanisms are incompletely understood, reduced circulatory levels of inorganic pyrophosphate (PPi)-a potent mineralization inhibitor-have been reported in PXE patients and were suggested to be useful as a disease biomarker. In this study, we explored the relation between PPi, the ABCC6 genotype and the PXE phenotype. For this, we optimized and validated a PPi measurement protocol with internal calibration that can be used in a clinical setting. An analysis of 78 PXE patients, 69 heterozygous carriers and 14 control samples revealed significant differences in the measured PPi levels between all three cohorts, although there was overlap between all groups. PXE patients had a +/- 50% reduction in PPi levels compared to controls. Similarly, we found a +/- 28% reduction in carriers. PPi levels were found to correlate with age in PXE patients and carriers, independent of the ABCC6 genotype. No correlations were found between PPi levels and the Phenodex scores. Our results suggest that other factors besides PPi are at play in ectopic mineralization, which limits the use of PPi as a predictive biomarker for severity and disease progression.
Keywords
GENERALIZED ARTERIAL CALCIFICATION, ECTOPIC MINERALIZATION, MOUSE MODEL, ALKALINE-PHOSPHATASE, ABCC6 GENE, MUTATIONS, FIBROBLASTS, ABCC6, heterozygous carriers, inorganic pyrophosphate, pseudoxanthoma, elasticum, genotype-phenotype correlation, biomarker

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MLA
Van Gils, Matthias, et al. “Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype.” JOURNAL OF CLINICAL MEDICINE, vol. 12, no. 5, MDPI, 2023, doi:10.3390/jcm12051893.
APA
Van Gils, M., Depauw, J., Coucke, P., Aerts, S., Verschuere, S., Nollet, L., & Vanakker, O. (2023). Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype. JOURNAL OF CLINICAL MEDICINE, 12(5). https://doi.org/10.3390/jcm12051893
Chicago author-date
Van Gils, Matthias, Justin Depauw, Paul Coucke, Shari Aerts, Shana Verschuere, Lukas Nollet, and Olivier Vanakker. 2023. “Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype.” JOURNAL OF CLINICAL MEDICINE 12 (5). https://doi.org/10.3390/jcm12051893.
Chicago author-date (all authors)
Van Gils, Matthias, Justin Depauw, Paul Coucke, Shari Aerts, Shana Verschuere, Lukas Nollet, and Olivier Vanakker. 2023. “Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype.” JOURNAL OF CLINICAL MEDICINE 12 (5). doi:10.3390/jcm12051893.
Vancouver
1.
Van Gils M, Depauw J, Coucke P, Aerts S, Verschuere S, Nollet L, et al. Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype. JOURNAL OF CLINICAL MEDICINE. 2023;12(5).
IEEE
[1]
M. Van Gils et al., “Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype,” JOURNAL OF CLINICAL MEDICINE, vol. 12, no. 5, 2023.
@article{01GX5SJ0WDQ7XM0MBKJK2V6YW3,
  abstract     = {{Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification disorder affecting soft connective tissues that is caused by biallelic ABCC6 mutations. While the underlying pathomechanisms are incompletely understood, reduced circulatory levels of inorganic pyrophosphate (PPi)-a potent mineralization inhibitor-have been reported in PXE patients and were suggested to be useful as a disease biomarker. In this study, we explored the relation between PPi, the ABCC6 genotype and the PXE phenotype. For this, we optimized and validated a PPi measurement protocol with internal calibration that can be used in a clinical setting. An analysis of 78 PXE patients, 69 heterozygous carriers and 14 control samples revealed significant differences in the measured PPi levels between all three cohorts, although there was overlap between all groups. PXE patients had a +/- 50% reduction in PPi levels compared to controls. Similarly, we found a +/- 28% reduction in carriers. PPi levels were found to correlate with age in PXE patients and carriers, independent of the ABCC6 genotype. No correlations were found between PPi levels and the Phenodex scores. Our results suggest that other factors besides PPi are at play in ectopic mineralization, which limits the use of PPi as a predictive biomarker for severity and disease progression.}},
  articleno    = {{1893}},
  author       = {{Van Gils, Matthias and Depauw, Justin and Coucke, Paul and Aerts, Shari and Verschuere, Shana and Nollet, Lukas and Vanakker, Olivier}},
  issn         = {{2077-0383}},
  journal      = {{JOURNAL OF CLINICAL MEDICINE}},
  keywords     = {{GENERALIZED ARTERIAL CALCIFICATION,ECTOPIC MINERALIZATION,MOUSE MODEL,ALKALINE-PHOSPHATASE,ABCC6 GENE,MUTATIONS,FIBROBLASTS,ABCC6,heterozygous carriers,inorganic pyrophosphate,pseudoxanthoma,elasticum,genotype-phenotype correlation,biomarker}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{13}},
  publisher    = {{MDPI}},
  title        = {{Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype}},
  url          = {{http://doi.org/10.3390/jcm12051893}},
  volume       = {{12}},
  year         = {{2023}},
}
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