Jouni Uitto: "Molecular Genetics of Ectopic Calcification Disorders – The Paradigm of Pseudoxanthoma Elasticum"
von 11:15 bis 12:15
|Wo||ZBSA Seminar Room, Habsburgerstr. 49, Freiburg|
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Prof. Jouni Uitto
Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Philadelphia, USA
Molecular Genetics of Ectopic Calcification Disorders – The Paradigm of Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement and cardiovascular problems, with considerable morbidity and mortality. The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, and several lines of evidence suggest that PXE is a primary metabolic disorder, which in the absence of ABCC6 transporter activity displays reduced plasma anti-mineralization capacity. Understanding of the pathomechanistic details of PXE provides a basis for the development of targeted molecule therapies for this, currently intractable, disease. These findings also have implications for treatment of more prevalent “acquired” conditions, such as vascular calcification in arteriosclerosis.