2012 PXE Research Meeting

2012 Research Meeting logo

The principal researchers working on PXE from laboratories around the world convened in Bethesda, Maryland, USA, on September 24-25, 2012 to participate in the 2012 PXE Research Meeting organized by PXE International, the premier lay organization advocating on behalf of PXE patients and their families. The presentations and ensuing discussions provided state-of-the-art, up-to-date information on epidemiology, diagnostics, pathomechanisms, and treatment potential relating to PXE, with translational implications. Further research, including identification of specific molecules transported by ABCC6, is necessary for development of global, pathophysiology-related approaches to treat this currently intractable disorder.


Click here: Summary article in Journal of Investigative Dermatology
Uitto J, Váradi A, Bercovitch L, Terry PF, Terry SF. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research MeetingJ Invest Dermatol. 2013 Jun;133(6):1444-9.

Click here: Lay summary of the 2012 PXE Research Meeting

Download Agenda


Presentation Abstracts

Below find presentations abstracts from the 2012 PXE Research Meeting. Click to expand or hide.

Session 1: Molecular Genetics of Mineralization Phenotypes
Session 2: Factors Modulating PXE Phenotypes
Session 3: Model Systems
Session 4: Clinical Characterization
Session 5: Therapeutic Approaches


Session 1: Molecular Genetics of Mineralization Phenotypes
Chair: Jouni Uitto

  • ENPP1 mutations in PXE and ABCC6 mutations in GACI - the phenotypic overlap
    Jouni Uitto, Jefferson Medical College, Philadelphia, PA


  • PXE/cutis laxa - clinical overlap
    Olivier Vanakker, Ghent University Hospital, Ghent, Belgium


  • New insights into the pathogenesis of pseudoxanthoma elasticum by identifying genetic interactions and modifiers
    Doris Hendig, Institute of Laboratory and Transfusion Medicine of the Heart and Diabetes Center, Bad Oeynhausen, Germany


  • Next-gen sequencing of ABCC6 and other PXE and modifying genes
    Michael Dean, National Cancer Institute, NIH, Frederick, MD




Session 2: Factors Modulating PXE Phenotype
Chair: Daniela Quaglino

  • Warfarin accelerates the ectopic mineralization in Abcc6-/- mice - clinical relevance to pseudoxanthoma elasticum
    Qiaoli Li, Jefferson Medical College, Philadelphia, PA


  • Dietary magnesium/phosphate influences carotid intima-media thickness - a novel biomarker for PXE
    Erine A. Kupetsky, University of Pittsburgh Medical Center, Pittsburgh, PA


  • Beyond the concept of defective carboxylation process in PXE
    Daniela Quaglino, University of Modena and Reggio Emilia, Modena, Italy




Session 3: Model Systems
Chair: András Váradi

  • Microcomputed tomography for quantitation of mineralization in Abcc6-/- mice
    Olivier Le Saux, University of Hawaii, Honolulu, HI


  • Experimental strategies to analyse missense disease-causing mutations of ABCC6 in vitro and in vivo
    András Váradi, Hungarian Academy of Sciences, Budapest, Hungary


  • ABCC6 expression is regulated by a primate-specific sequence located in the first intron of the gene
    Tamás Arányi, Hungarian Academy of Sciences, Budapest, Hungary



Session 4: Clinical Characterization
Chair: Lionel Bercovitch

  • Gender differences in pseudoxanthoma elasticum: Insights from the 2012 PXE Epidemiological Study
    Lionel Bercovitch, Brown University, Providence, RI


  • The vascular calcification phenotype in pseudoxanthoma elasticum: Report from the French cohort
    Georges Lefthériotis, Angers University Hospital, Angers, France


  • An altered lymphatic vasculature contributes to the calcification phenotype in pseudoxanthoma elasticum
    Olivier Le Saux, University of Hawaii, Honolulu, HI


  • A novel mouse model for PXE: The KK/HlJ mouse
    Annerose Berndt, University of Pittsburgh School of Medicine, Pittsburgh, PA



Session 5: Therapeutic Approaches
Chair: Mark Lebwohl

  • Cell-based therapies: Bone marrow transplantation, iPSCs and MSCs
    Qiujie Jiang, Jefferson Medical College, Philadelphia, PA


  • PTC read-through of ABCC6 nonsense mutations
    Yong Zhou, Jefferson Medical College, Philadelphia, PA


  • Clinical trials with dietary modulation
    Mark Lebwohl, Mt. Sinai School of Medicine, New York, NY