Pathogenic Variants Affecting Peptidyl Arginine Deiminase 3 and Its Major Substrates Underlie Central Centrifugal Cicatricial Alopecia

    November 2025 in “ PubMed ”
    Noy Keller Rosenthal, Ofer Sarig, Moshe Giladi, Kiril Malovitski, Rotem Rubinstein, Yoni Haitin, Jorge Larrondo, Yolanda Lenzy, Ncoza Dlova, Amy McMichael, Eli Sprecher
    TLDR Genetic variants in specific genes cause a type of hair loss.
    This study investigates the genetic basis of central centrifugal cicatricial alopecia (CCCA) in 75 patients, focusing on the PADI3 gene and its substrates. Researchers identified nine pathogenic variants in PADI3, including four new missense variants that disrupt protein function. Additionally, variants in the S100A3 and TCHH genes, which encode PADI3's main substrates, were found. These variants affect protein expression, localization, and enzymatic activity, impacting hair shaft integrity. The findings enhance understanding of CCCA's genetic mechanisms and could guide future genetic testing and therapies.
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      in Will treatment work for me? 3 years ago
      In this conversation, 4990 discussed various treatments for hair loss, including oral minoxidil, PRP, transplan, Jak inhibitors, Dutasteride, Finasteride, Olumiant, Ketoconazole, RU58841, microneedling, baricitinib, and CCCA. They recommended scalp biopsies in unclear cases of DUPA, twice weekly to twice daily shampooing for topical minoxidil users, and two sessions spaced one month apart with follow up at month three to determine the effectiveness of PRP treatment.
      If You Have DUPA, PLEASE READ THIS: Everyone Should Be Scalp Biopsied

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