Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa

    April 2022 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Cristina Has, Saliha Beyza Sayar, Shuangshuang Zheng, Esteban Chacón-Solano, Irina Condrat, Ayushi Yadav, Michel Roberge, Fernando Larcher Laguzzi
    TLDR A new therapy for a skin blistering condition has not been developed yet.
    This study explores the use of translational read-through-inducing drugs (TRIDs) to treat junctional epidermolysis bullosa (JEB) caused by nonsense mutations in the COL17A1 gene. Seven patients' keratinocytes were treated with gentamicin, paromomycin, G418, amlexanox, and PTC124. Gentamicin, paromomycin, and G418 showed varying effectiveness in inducing COL17 expression, especially in cells with the p.W464* mutation. Gentamicin significantly altered the expression of 1,118 genes, while paromomycin had a milder impact. The study concludes that aminoglycosides can induce read-through of COL17A1 nonsense mutations, suggesting potential personalized therapy for JEB patients.
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