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ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta.

Y-L Wang1,2, H-C Lin1, T Liang3

  • 1Department of Dentistry, National Taiwan University School of Dentistry, Taipei City, Taiwan.

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|May 8, 2024
PubMed
Summary
This summary is machine-generated.

New mutations in the ENAM gene cause amelogenesis imperfecta (AI) by leading to truncated enamelin proteins. These mutations result in ameloblast cell death and pathology, explaining hypomaturation AI.

Keywords:
ER stressbiomineralizationdental enamelprotein aggregationsecretionunfolded protein response

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Area of Science:

  • Genetics and Molecular Biology
  • Dental and Craniofacial Development
  • Cellular Pathology

Background:

  • Amelogenesis imperfecta (AI) encompasses inherited enamel malformations due to defects in enamel formation stages.
  • Mutations in the ENAM gene, encoding enamelin, are known to cause hypoplastic AI.
  • The specific mechanisms linking ENAM mutations to hypomaturation AI remain incompletely understood.

Purpose of the Study:

  • To investigate the genetic basis and pathogenic mechanisms of AI in two families with distinct enamel defects.
  • To characterize the functional consequences of novel ENAM mutations identified in these families.
  • To elucidate the role of ENAM mutations in ameloblast pathology and the development of hypomaturation AI.

Main Methods:

  • Genetic analysis to identify mutations in the ENAM gene in affected families.
  • Minigene splicing assays to assess the impact of mutations on ENAM protein processing.
  • In situ hybridization, protein secretion assays, endoplasmic reticulum stress analysis, and apoptosis assays (TUNEL, MTT) to evaluate cellular effects.

Main Results:

  • Two distinct indel mutations (c588+1del and c.588+1dup) in ENAM were identified, causing frameshifts and truncated ENAM proteins (p.Asn197Ilefs*81 and p.Asn197Glufs*25).
  • Truncated ENAM proteins were improperly secreted, impeded wild-type ENAM secretion, and potentially formed amyloid aggregates.
  • Overexpression of mutant ENAM induced endoplasmic reticulum stress, unfolded protein response (UPR), and significant ameloblast apoptosis, leading to cell death.

Conclusions:

  • ENAM mutations can cause generalized hypomaturation AI through ameloblast pathology and cell death, not just loss of function.
  • Proteinopathy, characterized by misfolded and aggregated proteins, is a potential pathogenic mechanism for ENAM-associated AI.
  • These findings expand the understanding of AI pathogenesis and highlight the critical role of proper enamelin protein processing and secretion.