A Homozygous Single T Deletion Found in the GGCX Gene with PXE-Like Phenotypes

    September 2016 in “ Journal of Dermatological Science ”
    Kosuke Yoshimi, Yumi Okubo, Susumu Ikehara, Yuta Koike, Yutaka Kuwatsuka, Atsushi Utani
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    TLDR A gene mutation worsens skin irritation in mice due to a lack of certain fats.
    The study examined the impact of the hairless (hr) gene on the development of atopic dermatitis-like pruritus in mice, using five different strains fed a special diet for 12 weeks. The HR-1 mice, with a mutation in the hr gene, exhibited the most severe symptoms, including decreased skin hydration, reduced skin barrier function, increased scratching, and a rise in dermal mast cells. A new hairless congenic strain, hr-ICR, also displayed similar symptoms, although mast cell hyperplasia was not fully replicated, indicating the involvement of other genetic factors. The research concluded that the hr gene mutation exacerbates atopic dermatitis-like pruritus in mice due to a deficiency in polyunsaturated fatty acids.
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