Abstract
Ehlers–Danlos syndrome (EDS) is a collection of inheritable diseases involving the musculoskeletal, integumentary and visual systems. Spondylodysplastic EDS-ZIP13 (spEDS-ZIP13: OMIM 612350) was recently defined as a new form of EDS. Although vasculitis has been found in many spEDS-ZIP13 patients, vascular pathology has not been included as a pathognomonic lesion of this type of EDS. We investigate the morphometry of the thoracic aorta in wild-type and Zip13-knockout (Zip13-KO) mice. Our assessment found abnormalities in the number and morphology of elastic and cellular components in the aortic wall, especially the tunica media, of Zip13-KO mice, indicating aortic fragility. Accordingly, our major findings (vascular smooth muscle cells with small nuclei, small percentage of elastic membrane area per tunica media, many large elastic flaps) should be considered vulnerable characteristics indicating fragility of the aorta in patients with spEDS-ZIP13.
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Acknowledgments
The authors express sincere gratitude to Drs. Hiromi Ueda and Jun Minaguchi of the Laboratory of Anatomy, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, Japan, for their technical advice.
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This work was partially supported by The Maple Foundation.
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Hirose, T., Shimazaki, T., Takahashi, N. et al. Morphometric analysis of thoracic aorta in Slc39a13/Zip13-KO mice. Cell Tissue Res 376, 137–141 (2019). https://doi.org/10.1007/s00441-018-2977-9
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DOI: https://doi.org/10.1007/s00441-018-2977-9