Work

Biochemical characterization of collagen I in Warmblood Fragile Foal Syndrome horse lysyl hydroxylase 1 mutation.

Year: 2024

Type: article

Abstract: 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.

Source: PubMed

DOI: 10.17912/micropub.biology.001399

Authors: Yoshihiro Ishikawa, Sara F. Tufa, Douglas R. Keene, Hans Peter Bächinger, Nena J Winand

Institutions: University of California, San Francisco, Shriners Hospitals for Children - Portland, Oregon Health & Science University, Cornell University, New York State College of Veterinary Medicine

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: green

Funders: Shriners Hospitals for Children, University of California, San Francisco

Awards: G8185608236, G8649474531