PXE and the Metabolism


The connection between PXE and the metabolism has been the topic of interest for many PXE researchers for many years. Multiple research avenues have been pursued to attempt to elucidate the complex nature of the pathology associated with PXE manifestations. However, studies with the Abcc6 knockout mouse provided the definite evidence that PXE is a metabolic disease.

Two experiments were performed using multiple combinations involving the transfer of vibrissae skin between KO and wild type mice to examine the possibility of a serum factor being the cause of the tissue mineralization seen in PXE. The team found that the WT skin on the back of the KO mouse, which was not mineralized at the start, became mineralized in 28.6% of the mice after it was grafted on the skin of the KO mice, while the KO skin was not mineralized at all after it was grafted on to the WT mouse´s back. In the second study the grafts were performed at 12 weeks of age after the muzzle skin of the KO mouse already showed mineralization. Researchers found that the KO skin grafted on to the WT mouse was less mineralized than it was at the time of grafting, and the KO skin grafted onto the KO mouse was more than twice as mineralized as it was at the time of grafting. These experiments demonstrate that a metabolite circulating the in bloodstream of affected individuals results in the clinical manifestations seen in PXE.

Currently, research is continuing to identify the serum factor involved in PXE. Studies are also underway to examine the effects of various dietary modifications on the development and severity of PXE, including phosphate, vitamin K, calcium, and magnesium.
 


Primary Researchers


Lionel Bercovitch
Piet Borst
Michael Dean
Anne De Paepe
Timothy Hefferon
Doris Hendig
Robert Jansen
Qiujie Jiang
Olivier Le Saux
Qiaoli Li
Ludovic Martin
Ivonne Pasquali-Ronchetti
Daniela Quaglino
Jouni Uitto
Olivier Vanakker
Koen van de Wetering
András Váradi


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