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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11749069 | PMC |
| http://dx.doi.org/10.17912/micropub.biology.001399 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Biochemical characterization of collagen I in Warmblood Fragile Foal Syndrome horse lysyl hydroxylase 1 mutation.
MicroPubl Biol
January 2025
Department of Molecular Medicine, College of Veterinary Medicine, Cornell University, Ithaca, New York, United States.
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.
View Article and Find Full Text PDFWarmblood fragile foal syndrome: Pregnancy loss in Warmblood mares.
Equine Vet J
November 2024
Clinic for Horses - Unit for Reproductive Medicine, University of Veterinary Medicine Hanover, Hanover, Germany.
Background: Fragile foal syndrome (FFS) or warmblood FFS Type 1 (WFFS) is a recessive, autosomal, hereditary, genetic defect causing late abortions, stillbirths and non-viable foals. Whether early pregnancy losses occur is unknown.
Objectives: To investigate how WFFS affects pregnancies and whether early pregnancy losses occur in WFFS matings and if there is a difference in pregnancy success between matings where both parents were allele carriers and those where only mare or stallion were WFFS carriers.
Quantifying the effect of Warmblood Fragile Foal Syndrome on foaling rates in the German riding horse population.
PLoS One
August 2022
Genetic Evaluation Division, IT Solutions for Animal Production (vit), Verden, Germany.
Awareness of breeders of Warmblood Fragile Foal Syndrome (WFFS) increased after a widely discussed case in the USA in 2018. The hereditary connective tissue disorder, first described by a US research group in 2011 and for which a commercial genetic test exists since 2013, is caused by a point mutation in the PLOD1 gene, inherited autosomal recessively. Extension of molecular genetic testing and reporting of test results of organized horse breeders to their studbooks implies new opportunities for analyses.
View Article and Find Full Text PDFPerformance of Swedish Warmblood fragile foal syndrome carriers and breeding prospects.
Genet Sel Evol
January 2022
Dept. of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, PO Box 7023, S-750 07, Uppsala, Sweden.
Background: Warmblood fragile foal syndrome (WFFS) is a monogenetic defect caused by a recessive lethal missense point mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene (PLOD1, c.2032G>A). The majority of homozygous WFFS horses are aborted during gestation.
View Article and Find Full Text PDFFor the first time researchers have confirmed a case of fragile foal syndrome in a non-warmblood horse. Georgina Mills reports.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!