Bald Thigh Syndrome in Sighthounds: Revisiting the Cause of a Well-Known Disease

    February 2019 in “ PloS one ”
    Magdalena A. T. Brunner, Silvia Rüfenacht, Anina Bauer, Susanne Erpel, Natasha Buchs, Sophie Braga-Lagache, Manfred Heller, Tosso Leeb, Vidhya Jagannathan, Dominique J Wiener, Monika Welle
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    TLDR Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
    The study investigated the cause of bald thigh syndrome in sighthounds, focusing on pathological changes in hair shafts. By comparing skin biopsies and hair shafts of affected and control dogs using genomics, transcriptomics, and proteomics, researchers found severe structural abnormalities in the hair shafts of affected dogs. This was linked to the downregulation of genes and proteins crucial for hair shaft formation, including 23 hair shaft keratins and 51 keratin-associated proteins. A missense variant in the IGFBP5 gene was identified in all affected Greyhounds and other sighthounds, suggesting a potential genetic risk factor. The study concluded that structural defects in hair shafts, associated with downregulated genes and proteins, are the cause of bald thigh syndrome.
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