title: Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.
abstract: Heritable ectopic mineralization disorders represent a phenotypically diverse group of conditions characterized by deposition of calcium phosphate complexes in soft connective tissues. The prototype of such conditions is pseudoxanthoma elasticum, and related conditions with overlapping clinical features include generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. Molecular genetic investigations have revealed mutations in the genes physiologically involved in generation of inorganic pyrophosphate and inorganic phosphate, and the findings suggest a unifying pathomechanism relating to reduced inorganic pyrophosphate/inorganic phosphate ratio. This hypothesis is based on the notion that inorganic pyrophosphate serves as a powerful inhibitor of mineralization, whereas inorganic phosphate is a promineralization factor, and an appropriate inorganic pyrophosphate/inorganic phosphate ratio is critical for prevention of ectopic mineralization under homeostatic conditions.
authors.affiliation: Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: Qiaoli
authors.initials: Q
authors.lastname: Li
authors.affiliation: Institute of Enzymology, RCNS, Hungarian Academy of Science, Budapest, Hungary.
authors.forename: Tamás
authors.initials: T
authors.lastname: Arányi
authors.affiliation: Institute of Enzymology, RCNS, Hungarian Academy of Science, Budapest, Hungary.
authors.forename: András
authors.initials: A
authors.lastname: Váradi
authors.affiliation: PXE International, Washington, DC, USA.
authors.forename: Sharon F
authors.initials: SF
authors.lastname: Terry
authors.affiliation: Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address: Jouni.Uitto@jefferson.edu.
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
mesh_terms: D015720:5'-Nucleotidase / Q000235:genetics; D000818:Animals; D035843:Biomedical Research / Q000639:trends; D011756:Diphosphates / Q000378:metabolism*; D005544:Forecasting; D058851:GPI-Linked Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008967:Molecular Biology / Q000379:methods; D009154:Mutation; D010641:Phenotype; D011561:Pseudoxanthoma Elasticum / Q000235:genetics*; D035583:Rare Diseases; D061205:Vascular Calcification / Q000235:genetics* / Q000503:physiopathology
chemical_list: D011756:Diphosphates; D058851:GPI-Linked Proteins; C107241:diphosphoric acid; D015720:5'-Nucleotidase; C548241:NT5E protein, human