Sie sind hier: FRIAS School of Life Sciences … Veranstaltungen Jouni Uitto: "Molecular Genetics …

Jouni Uitto: "Molecular Genetics of Ectopic Calcification Disorders – The Paradigm of Pseudoxanthoma Elasticum"

Wann 05.02.2010
von 11:15 bis 12:15
Wo ZBSA Seminar Room, Habsburgerstr. 49, Freiburg
Kontakttelefon +49 (0)761 203 97418
Teilnehmer Universitäts öffentlich
Termin übernehmen vCal

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.