Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.
Pseudoxanthoma elasticum is a prototype of heritable ectopic mineralization disorders, with phenotypic overlap with generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. Recent observations have suggested that the reduced inorganic pyrophosphate/phosphate ratio is the cause of soft connective tissue mineralization in these disorders. PXE International, a patient advocacy organization, supports research in part by sponsoring biennial research symposia on these disorders; the latest meeting was held in September 2016 at Thomas Jefferson University, Philadelphia. This report summarizes the progress in pseudoxanthoma elasticum and other ectopic mineralization disorders, as presented in the symposium, with focus on translational aspects of precision medicine toward improved diagnostics and treatment development for these currently intractable disorders.
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address: Jouni.Uitto@Jefferson.edu.
Jouni
J
Uitto
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Qiaoli
Q
Li
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Koen
K
van de Wetering
Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary.
András
A
Váradi
PXE International, Washington, District of Columbia, USA.
Sharon F
SF
Terry
D015720:5'-Nucleotidase / Q000187:drug effects / Q000235:genetics; D000469:Alkaline Phosphatase / Q000187:drug effects / Q000235:genetics; D000818:Animals; D001707:Biopsy, Needle; D002986:Clinical Trials as Topic; D003226:Congresses as Topic; D011756:Diphosphates / Q000378:metabolism*; D004195:Disease Models, Animal; D012968:Etidronic Acid / Q000494:pharmacology* / Q000627:therapeutic use; D058851:GPI-Linked Proteins / Q000187:drug effects / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D038622:Internationality; D051379:Mice; D009154:Mutation; D010727:Phosphoric Diester Hydrolases / Q000187:drug effects / Q000235:genetics; D011561:Pseudoxanthoma Elasticum / Q000235:genetics* / Q000473:pathology; D011755:Pyrophosphatases / Q000187:drug effects / Q000235:genetics; D035583:Rare Diseases; D061205:Vascular Calcification / Q000235:genetics* / Q000503:physiopathology
D011756:Diphosphates; D058851:GPI-Linked Proteins; C107241:diphosphoric acid; C548267:ALPL protein, human; D000469:Alkaline Phosphatase; D015720:5'-Nucleotidase; C548241:NT5E protein, human; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases; D012968:Etidronic Acid