Genetic Variants in Pachyonychia Congenita-Associated Keratins Increase Susceptibility to Tooth Decay

    January 2018 in “ PLoS Genetics ”
    Olivier Duverger, Jenna C. Carlson, Chelsea M. Karacz, Mary Schwartz, Michael A. Cross, Mary L. Marazita, John R. Shaffer, María I. Morasso
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    Studysummary This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
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    The study investigated the role of genetic variants in keratins associated with pachyonychia congenita (PC) and their impact on tooth decay. Researchers analyzed data from 573 adults and 449 children, identifying missense polymorphisms in KRT6A, KRT6B, and KRT6C that increased susceptibility to dental caries. Structural analysis of teeth from a PC patient with a specific keratin-6a mutation showed disrupted enamel rod sheaths. Additionally, certain SNPs in KRT6 genes altered the assembly of keratin filaments in ameloblast-like cells, affecting enamel formation. The findings highlighted new keratins involved in enamel formation and identified novel genetic loci linked to tooth decay, expanding the clinical understanding of PC.
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