Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality

This study explores the role of the zinc transporter ZIP13 in hair quality, focusing on a 20-year-old male with Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) due to a ZIP13 variant. The patient showed abnormal hair quality, such as sparse and thin hair in certain body areas, but not on the scalp. Using an SCD-EDS mouse model, researchers observed similar hair issues, including bald patches and increased fragility. Transcriptomic analysis indicated dysregulation in pathways related to cell proliferation and adhesion, suggesting that ZIP13 deficiency affects hair quality by altering cellular processes. The study emphasizes the significance of zinc and Golgi homeostasis in hair maintenance and proposes that targeting ZIP13 or Golgi homeostasis could offer new strategies for hair loss treatments.