Hypercementosis Associated with ENPP1 Mutations and GACI.

ABSTRACT: Mineralization of bones and teeth is tightly regulated by levels of extracellular inorganic phosphate (P_i) and pyrophosphate (PP_i). Three regulators that control pericellular concentrations of P_i and PP_i include tissue-nonspecific alkaline phosphatase (TNAP), progressive ankylosis protein (ANK), and ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). Inactivation of these factors results in mineralization disorders affecting teeth and their supporting structures. This study for the first time analyzed the effect of decreased PP_i on dental development in individuals with generalized arterial calcification of infancy (GACI) due to loss-of-function mutations in the ENPP1 gene. Four of the 5 subjects reported a history of infraoccl

SUBMITTER: Thumbigere-Math V 

PROVIDER: S-EPMC5863873 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature