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

    November 2024 in “ Journal of Investigative Dermatology ”
    N Keller Rosenthal, O. Sarig, Moshe Giladi, K. Malovitski, R. Rubinstein, Yoni Haitin, Regina C. Betz, Ncoza C. Dlova, Amy McMichael, Eli Sprecher
    TLDR Genetic changes in specific proteins contribute to hair loss in some women of African descent.
    Central centrifugal cicatricial alopecia (CCCA) is a prevalent form of scarring alopecia in women of African descent, characterized by permanent hair loss. This study involved exome sequencing of 75 CCCA patients, identifying 9 missense variants and 1 splicing variant in the PADI3 gene, which encodes peptidyl arginine deiminase 3. These variants lead to deleterious changes in protein structure, reducing PADI3 expression and enzymatic activity. Additionally, pathogenic variants were found in PADI3 substrates, S100A3 and TCHH, affecting hair shaft formation. Overall, 36% of patients carried pathogenic variants in these genes, underscoring the genetic basis of CCCA and the role of protein citrullination in hair formation.
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      community scarring alopecia awareness in this community

      in Chat  33 upvotes 3 years ago
      Lichen Planopilaris (LPP), a form of permanent hair loss, which can be mistaken for seborrheic dermatitis and is characterized by scalp itching, burning, redness, and dandruff. Treatment options discussed include steroidal creams, finasteride, minoxidil, and RU58841.
      If You Have DUPA, PLEASE READ THIS: Everyone Should Be Scalp Biopsied

      community If You Have DUPA, PLEASE READ THIS: Everyone Should Be Scalp Biopsied

      by nkrata in Research  830 upvotes 1 year ago
      Scalp biopsies are crucial for diagnosing hair loss conditions like Diffuse Unpatterned Alopecia (DUPA) and retrograde hair loss, as treatments like finasteride and dutasteride may not be effective if other conditions are present. Combining PPAR-GAMMA agonists with retinoids could improve treatments for conditions like Lichen Planopilaris.

      community I am a dermatologist with a clinical interest in alopecia. AMA

      in Will treatment work for me? 3 years ago
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