Pseudoxanthoma Elasticum Is a Metabolic Disease
| Autor: | Jouni Uitto, Krystle Wang, Qiujie Jiang, Masayuki Endo, Florian Dibra |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
Pathology
medicine.medical_specialty Cell Dermatologic Surgical Procedures ABCC6 Dermatology Biochemistry 03 medical and health sciences Mice 0302 clinical medicine medicine Animals Pseudoxanthoma Elasticum Pathological Molecular Biology 030304 developmental biology Skin Mice Knockout 0303 health sciences Minerals biology business.industry Metabolic disorder Graft Survival Cell Biology Skin Transplantation medicine.disease Pseudoxanthoma elasticum Phenotype 3. Good health Capillaries Mice Inbred C57BL Disease Models Animal medicine.anatomical_structure 030220 oncology & carcinogenesis Vibrissae Circulatory system biology.protein ATP-Binding Cassette Transporters Multidrug Resistance-Associated Proteins business Homeostasis |
| Zdroj: | Journal of Investigative Dermatology. (2):348-354 |
| ISSN: | 0022-202X |
| DOI: | 10.1038/jid.2008.212 |
| Popis: | Pseudoxanthoma elasticum (PXE) is a pleiotropic multisystem disorder affecting skin, eyes, and the cardiovascular system with progressive pathological mineralization. It is caused by mutations in the ABCC6 gene expressed primarily in the liver and kidneys, and at very low levels, if at all, in tissues affected by PXE. A question has arisen regarding the pathomechanism of PXE, particularly the “metabolic” versus the “PXE cell” hypotheses. We examined a murine PXE model (Abcc6-/-) by transplanting muzzle skin from knockout (KO) and wild-type (WT) mice onto the back of WT and KO mice using mineralization of the connective tissue capsule surrounding the vibrissae as an early phenotypic biomarker. Grafting of WT mouse muzzle skin onto the back of KO mice resulted in mineralization of vibrissae, whereas grafting KO mouse muzzle skin onto WT mice did not. Thus, these findings implicate circulatory factors as a critical component of the mineralization process. This mouse grafting model supports the notion that PXE is a systemic metabolic disorder with secondary mineralization of connective tissues and that the mineralization process can be countered or even reversed by changes in the homeostatic milieu.JID JOURNAL CLUB ARTICLE: For questions, answers, and open discussion about this article please go to http://network.nature.com/group/jidclub |
| Databáze: | OpenAIRE |
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