Molecular Genetics of Inherited Disorders of Epidermal Keratins

    March 2009 in “ Encyclopedia of Life Sciences ”
    Eli Sprecher
    TLDR Mutations in keratin genes cause skin disorders, but new treatments show promise.
    The document discussed the role of keratins in the epidermal cell cytoskeleton, highlighting their importance in resisting mechanical stress and regulating processes like protein synthesis, cell migration, and apoptosis. It focused on keratinopathies, rare disorders caused by mutations in keratin genes, which exhibit genetic and phenotypic heterogeneity. Recent therapeutic approaches, including a clinical trial using siRNA for pachyonychia congenita, showed promise in treating these inherited skin diseases by targeting and eliminating mutant proteins.
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