Impact of the <i>ENPP1</i> mutation on bone mineralization and ectopic calcification: evidence from <i>in vitro</i> and <i>in vivo</i> models.

ABSTRACT:

Background

Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) plays a key role in mineralization processes, and mutations in this gene are associated with various severe diseases. Clinical case reports have implicated the ENPP1 Y451C mutation in diffuse idiopathic skeletal hyperostosis patients, but its precise impact on bone mineralization and ectopic calcification remains unclear.

Methods

We used bioinformatics tools and in vitro functional assays to assess the impact of the ENPP1 Y451C mutation on protein structure and enzymatic activity. Furthermore, we generated a knock-in mouse model (Enpp1^Y433C ) to evaluate microarchitecture or signs of ectopic calcification by Micro-CT.

Results

Bioinformatics analysis and

SUBMITTER: Wu W 

PROVIDER: S-EPMC12173856 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature