Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders

Qiaoli Li, T. Arányi, A. Váradi, Sharon F. Terry, Jouni Uitto

Research output: Contribution to journalShort survey

14 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)550-556
Number of pages7
JournalJournal of Investigative Dermatology
Volume136
DOIs
Publication statusPublished - 2015

Fingerprint

Pseudoxanthoma Elasticum
Rubber
Phosphates
Research
Connective Tissue
Molecular Biology
Genes
Tissue
Mutation
diphosphoric acid

ASJC Scopus subject areas

  • Biochemistry
  • Medicine(all)
  • Molecular Biology
  • Dermatology
  • Cell Biology

Cite this

Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders. / Li, Qiaoli; Arányi, T.; Váradi, A.; Terry, Sharon F.; Uitto, Jouni.

In: Journal of Investigative Dermatology, Vol. 136, 2015, p. 550-556.

Research output: Contribution to journalShort survey

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