Ishikawa Yoshihiro, Tufa Sara F, Keene Douglas R, Bächinger Hans Peter, Winand Nena J
Department of Ophthalmology, University of California, San Francisco, San Francisco, California, United States.
Micro-Imaging Center, Shriners Children's, Portland, Oregon, United States.
MicroPubl Biol. 2025 Jan 3;2025. doi: 10.17912/micropub.biology.001399. eCollection 2025.
Mutations in the collagen-modifying enzyme lysyl hydroxylase 1 (LH1) cause Warmblood Fragile Foal Syndrome (WFFS) in horses. We investigated the impact of this mutation on collagen structure and function. Our results show that LH1 deficiency leads to reduced lysine hydroxylation, altered collagen fibril organization, and tissue abnormalities resembling human Ehlers-Danlos syndrome. These findings highlight the critical role of LH1 in collagen biosynthesis and provide insights into the pathogenesis of WFFS.
胶原蛋白修饰酶赖氨酰羟化酶1（LH1）的突变会导致马匹出现温血马脆弱驹综合征（WFFS）。我们研究了这种突变对胶原蛋白结构和功能的影响。我们的结果表明，LH1缺乏会导致赖氨酸羟化减少、胶原纤维组织改变以及类似于人类埃勒斯-丹洛斯综合征的组织异常。这些发现突出了LH1在胶原蛋白生物合成中的关键作用，并为WFFS的发病机制提供了见解。
