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Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential Treatment
1Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
The Journal of Investigative Dermatology. Symposium Proceedings
|November 26, 2018
Summary
Pseudoxanthoma elasticum (PXE) is a genetic disorder causing calcium buildup in tissues. Mutations in the ABCC6 gene lead to this condition, but the exact mechanism and transported factors remain unknown.
Area of Science:
- Genetics
- Biochemistry
- Pathology
Background:
- Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder.
- Characterized by ectopic calcification in skin, eyes, and cardiovascular system.
- Major complications include vision loss and cardiovascular issues.
Purpose of the Study:
- To investigate the underlying mechanisms of PXE.
- To identify the factors transported by ABCC6.
- To understand the metabolic hypothesis of PXE.
Main Methods:
- Analysis of ABCC6 gene mutations.
- Study of ABCC6 transporter function.
- Investigation of metabolic pathways related to ectopic mineralization.
Main Results:
- PXE is caused by loss-of-function mutations in the ABCC6 gene.
- ABCC6 encodes a transmembrane efflux transporter.
- The exact factors transported by ABCC6 are currently unidentified.
Conclusions:
- The absence of functional ABCC6 leads to a deficiency in circulating factors.
- This deficiency is hypothesized to cause ectopic mineralization in PXE.
- Further research is needed to identify the ABCC6-transported factors.
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