Dentin defects caused by a Dspp^-1 frameshift mutation are associated with the activation of autophagy.

ABSTRACT: Dentin sialophosphoprotein (DSPP) is primarily expressed by differentiated odontoblasts (dentin-forming cells), and transiently expressed by presecretory ameloblasts (enamel-forming cells). Disease-causing DSPP mutations predominantly fall into two categories: 5' mutations affecting targeting and trafficking, and 3' - 1 frameshift mutations converting the repetitive, hydrophilic, acidic C-terminal domain into a hydrophobic one. We characterized the dental phenotypes and investigated the pathological mechanisms of Dspp^P19L and Dspp^-1fs mice that replicate the two categories of human DSPP mutations. In Dspp^P19L mice, dentin is less mineralized but contains dentinal tubules. Enamel mineral density is reduced. Intracellular accumulation and ER retention of DSPP

SUBMITTER: Liang T 

PROVIDER: S-EPMC10115861 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature