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Cellular signaling in pseudoxanthoma elasticum: an update.
M Van Gils1, L Nollet2, E Verly2
1Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Belgium.
Cellular Signalling
|January 8, 2019
Summary
Pseudoxanthoma elasticum (PXE) involves elastic fiber calcification. This study explores cellular signaling pathways, particularly TGF-β and BMP, and identifies ANKH deficiency as a potential contributor to low pyrophosphate levels in PXE.
Area of Science:
- Genetics and Molecular Biology
- Dermatology
- Biochemistry
Background:
- Pseudoxanthoma elasticum (PXE) is an inherited disorder causing elastic fiber mineralization.
- Mutations in ABCC6 or ENPP1 genes lead to PXE, affecting skin, eyes, and cardiovascular health.
- Despite advances, the ABCC6 transporter's substrates and precise role in mineralization remain unknown.
Purpose of the Study:
- To review and synthesize current knowledge on cellular signaling in PXE.
- To investigate the roles of TGF-β, BMP, and inorganic pyrophosphate (PPi) signaling in PXE pathogenesis.
- To present novel signaling data and clarify upstream/downstream pathways.
Main Methods:
- Literature review and data compilation on PXE cellular signaling.
- Analysis of signaling pathways including TGF-β, BMP, and PPi.
- Investigation of novel signaling data and ANKH deficiency.
Main Results:
- PXE cellular signaling appears centered on TGF-β, BMP, and PPi cascades.
- Conflicting data were addressed with new signaling insights.
- ANKH deficiency was identified as a potential mechanism for reduced serum PPi in PXE patients.
Conclusions:
- Understanding PXE signaling pathways is crucial for therapeutic development.
- TGF-β and BMP signaling are key areas for further PXE research.
- ANKH deficiency offers a new perspective on PPi dysregulation in PXE.
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