Availability of mRNA from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa

    November 2022 in “ Journal of Investigative Dermatology ”
    Eijiro Akasaka, H. Nakano, D. Sawamura
    Image of study
    TLDR Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
    The study established a new method for analyzing the effects of mutations in Dystrophic epidermolysis bullosa (DEB) using COL7A1 mRNA extracted from peripheral blood mononuclear cells (PBMCs). The method was tested on four COL7A1 mutations in three Japanese individuals with recessive DEB. The results accurately detected the consequences of two recurrent and one novel COL7A1 mutations, and identified aberrant splicing from a mutation previously reported as a nonsense mutation. The study also found that type VII collagen-expressing cells in PBMCs have similar cell surface markers as mesenchymal stem cells, suggesting that a small number of these cells are circulating in the peripheral blood, enabling the detection of COL7A1 mRNA in PBMCs. This new method could significantly contribute to genetic diagnoses and novel therapies for DEB.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 14 results

      community Hairloss is mentally exhausting

      in Chat  25 upvotes 3 years ago
      The conversation is about the mental toll of hair loss and seeking alternatives to finasteride. Suggestions include using minoxidil, considering pumpkin seed oil, and possibly seeking counseling for body dysmorphic disorder.

      community 5MG finasteride everyday June 1st 2024 - October 7th 2024

      in Progress Pictures  182 upvotes 1 month ago
      The user has been using 1.25 mg of finasteride daily since June 2024 to promote hair regrowth and thickness, considering switching to dutasteride if results are unsatisfactory. They are hesitant to add minoxidil due to cost and potential side effects but have seen some progress with finasteride alone.

      community 5.5 months on oral min questions. Please help😭

      in Treatment  11 upvotes 2 months ago
      The user has been on finasteride for over a year and switched from topical to oral minoxidil five months ago, but is unsure if the current shedding and small hairs are signs of improvement or worsening. They are seeking advice on whether to wait longer or switch treatments.

      community Minoxidil unironically helped me score a date

      in Update  458 upvotes 8 months ago
      A 23-year-old man started using Minoxidil for hair thinning and experienced improvement, which helped him gain the confidence to ask a girl out, resulting in a date. Other users congratulated him and discussed the importance of hair appearance in dating, with some suggesting other treatments like finasteride or hair transplants.

    Similar Research

    5 / 1000+ results