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.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 105 results

      community Female AGA - Low Cortisol/Low DHEA

      in Female  7 upvotes 2 years ago
      Female (37) experiencing hair loss for 5 years, tried max dose of spiro and oral + topical minox without success. Discovered low cortisol and low DHEA levels, seeking functional medicine practitioner for help.

      community PP405 bandwagon, time to resume the hype train.

      in Treatment  163 upvotes 3 months ago
      PP405 shows promise in hair regrowth, potentially outperforming existing treatments like finasteride and minoxidil, with significant results in just four weeks. The treatment is still in early stages, with further trials needed to determine its long-term effectiveness and optimal dosage.

      community Hair Loss "a matter of survival" in South Korea

      in Research/Science  331 upvotes 6 days ago
      South Korea's president is advocating for hereditary hair loss to be covered by national health insurance due to its impact on mental health and daily functioning. The discussion highlights the societal pressure in South Korea regarding appearance and the potential benefits of treating hair loss to improve mental health.

      community 5 years on finasteride only: age 21 to 26.

      in Progress Pictures  773 upvotes 5 months ago
      A user shared their five-year experience with finasteride for hair loss, noting positive results and no side effects. The discussion included debates on potential side effects like erectile dysfunction and the treatment's effectiveness.

    Similar Research

    5 / 1000+ results