Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders

The Journal of Investigative Dermatology
Qiaoli LiJouni Uitto

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.

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Citations

Apr 30, 2016·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Qiaoli LiJohn P Sundberg
Nov 5, 2016·Journal of Proteome Research·Mie R RasmussenSøren K Moestrup
Jan 24, 2017·The Journal of Investigative Dermatology·Qiaoli LiJouni Uitto
Sep 20, 2018·The Australasian Journal of Dermatology·Julio Cesar Salas-AlanisJouni Uitto
Sep 25, 2017·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Agnes KarasikFlóra Szeri
May 11, 2017·Orphanet Journal of Rare Diseases·Dominique P Germain
May 6, 2019·International Journal of Molecular Sciences·Lukas NolletOlivier Vanakker
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Dec 15, 2020·American Journal of Ophthalmology·Vittoria MurroFabrizio Giansanti
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Methods Mentioned

BETA
exome sequencing

Clinical Trials Mentioned

NCT01525875

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