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Hypercementosis Associated with ENPP1 Mutations and GACI.

V Thumbigere-Math1,2, A Alqadi3, N I Chalmers4

  • 11 National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, USA.

Journal of Dental Research
|December 16, 2017
PubMed
Summary
This summary is machine-generated.

Genetic mutations causing low pyrophosphate (PPi) in Generalized Arterial Calcification of Infancy (GACI) lead to hypercementosis, a novel dental finding. This impacts tooth movement and exfoliation, revealing a conserved role for ENPP1 in cementum development.

Keywords:
cementumenamelgeneralized arterial calcification of infancymineralized tissue/developmentperiodontal tissues/developmenttooth development

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Area of Science:

  • Dental Development
  • Mineral Metabolism
  • Genetics

Background:

  • Bone and tooth mineralization depend on extracellular inorganic phosphate (Pi) and pyrophosphate (PPi).
  • Tissue-nonspecific alkaline phosphatase (TNAP), progressive ankylosis protein (ANK), and ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) regulate pericellular Pi and PPi concentrations.
  • Disruptions in these regulators cause mineralization disorders affecting teeth.

Observation:

  • This study investigated the dental effects of decreased PPi in individuals with Generalized Arterial Calcification of Infancy (GACI) due to ENPP1 loss-of-function mutations.
  • Subjects exhibited infraocclusion, retained primary teeth, ankylosis, and slow orthodontic tooth movement, suggesting altered mineral metabolism.
  • Radiographs showed unusual cervical root morphology, and micro-CT analysis revealed significantly increased cervical cementum thickness and density in GACI teeth.

Findings:

  • GACI teeth displayed a 4-fold increase in cervical cementum thickness and a 23% increase in cementum density compared to controls.
  • Enamel and dentin densities remained unchanged.
  • Enpp1 mutant mouse molars showed similar increases in acellular cementum thickness and volume, indicating a conserved response.

Implications:

  • This research identifies a novel dental phenotype in GACI patients, characterized by hypercementosis linked to ENPP1 mutations.
  • The findings highlight the critical role of PPi levels in regulating cementogenesis, a fundamental biological process conserved across species.
  • Understanding this mechanism may inform future therapeutic strategies for mineralization disorders affecting dental health.