Allele frequency and likely impact of the glycogen branching enzyme deficiency gene in Quarter Horse and Paint Horse populations.
Abstract: Glycogen Branching Enzyme Deficiency (GBED), a fatal condition recently identified in fetuses and neonatal foals of the Quarter Horse and Paint Horse lineages, is caused by a nonsense mutation in codon 34 of the GBE1 gene, which prevents the synthesis of a functional GBE protein and severely disrupts glycogen metabolism. The aims of this project were to determine the mutant GBE1 allele frequency in random samples from the major relevant horse breeds, as well as the frequency with which GBED is associated with abortion and early neonatal death using the tissue archives from veterinary diagnostic laboratories. The mutant GBE1 allele frequency in registered Quarter Horse, Paint Horse, and Thoroughbred populations was 0.041, 0.036, and 0.000, respectively. Approximately 2.5% of fetal and early neonatal deaths in Quarter Horse-related breeds submitted to 2 different US diagnostic laboratories were homozygous for the mutant GBE1 allele, with the majority of these being abortions. Retrospective histopathology of the homozygotes detected periodic acid Schiff's (PAS)-positive inclusions in the cardiac or skeletal muscle, which is characteristic of GBED, in 8 out of the 9 cases. Pedigree and genotype analyses supported the hypothesis that GBED is inherited as a simple recessive trait from a single founder. The frequency with which GBED is associated with abortion and neonatal mortality in Quarter Horse-related breeds makes the DNA-based test valuable in determining specific diagnoses and designing matings that avoid conception of a GBED foal.
Publication Date: 2006-10-27 PubMed ID: 17063718DOI: 10.1892/0891-6640(2006)20[1207:afalio]2.0.co;2Google Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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The research article explores the prevalence and impact of the Glycogen Branching Enzyme Deficiency (GBED) gene in Quarter Horse and Paint Horse populations. It identifies GBED as a fatal condition and the study sets out to determine its frequency in major horse breeds and its association with abortion and neonatal deaths.
Understanding the GBED Condition
- GBED is a deadly condition that is recently discovered in fetuses and newborn foals of the Quarter Horse and Paint Horse breeds.
- It is caused by a nonsense mutation in codon 34 of the GBE1 gene. This mutation prevents the formation of a functional GBE protein, which severely disrupts glycogen metabolism.
- Glycogen metabolism is crucial for the body’s energy storage and release. When this process is disrupted, it can lead to severe health problems.
Aims of the Project
- The research aims to determine the frequency of the mutant GBE1 allele in random samples from major relevant horse breeds.
- It also seeks to establish the frequency with which GBED is associated with abortion and early neonatal death.
- The study uses tissue archives from veterinary diagnostic laboratories to achieve these aims.
Findings of the Study
- The mutant GBE1 allele frequency in registered Quarter Horse, Paint Horse, and Thoroughbred populations was found to be 0.041, 0.036, and 0.000, respectively.
- About 2.5% of fetal and early neonatal deaths in Quarter Horse-related breeds submitted to two different US diagnostic laboratories were homozygous for the mutant GBE1 allele, with most of these cases being abortions.
- Periodic acid Schiff’s (PAS)-positive inclusions in the cardiac or skeletal muscle were detected in 8 out of 9 cases.
- These signs are characteristic of GBED, reinforcing the findings of the research.
Implications of the Research
- The results support the hypothesis that GBED is inherited as a simple recessive trait from a single founder.
- The frequency with which GBED is associated with abortion and neonatal mortality in Quarter Horse-related breeds makes the DNA-based test valuable in assigning specific diagnoses and planning breeding that prevents the conception of a GBED foal.
This research provides valuable insight into the GBED gene mutation in horse breeds. This information can be instrumental in designing effective strategies to manage or even eliminate this fatal condition.
Cite This Article
APA
Wagner ML, Valberg SJ, Ames EG, Bauer MM, Wiseman JA, Penedo MC, Kinde H, Abbitt B, Mickelson JR.
(2006).
Allele frequency and likely impact of the glycogen branching enzyme deficiency gene in Quarter Horse and Paint Horse populations.
J Vet Intern Med, 20(5), 1207-1211.
https://doi.org/10.1892/0891-6640(2006)20[1207:afalio]2.0.co;2 Publication
Researcher Affiliations
- Department of Veterinary Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, St Paul 55108, USA.
MeSH Terms
- 1,4-alpha-Glucan Branching Enzyme / deficiency
- 1,4-alpha-Glucan Branching Enzyme / genetics
- Abortion, Veterinary / enzymology
- Abortion, Veterinary / genetics
- Abortion, Veterinary / pathology
- Alleles
- Animals
- Animals, Newborn
- DNA / chemistry
- DNA / genetics
- Female
- Genotype
- Glycogen Storage Disease Type IV / enzymology
- Glycogen Storage Disease Type IV / genetics
- Glycogen Storage Disease Type IV / pathology
- Glycogen Storage Disease Type IV / veterinary
- Histocytochemistry / veterinary
- Horse Diseases / enzymology
- Horse Diseases / genetics
- Horse Diseases / pathology
- Horses
- Muscle, Skeletal / pathology
- Myocardium / pathology
- Pedigree
- Polymerase Chain Reaction / veterinary
- Pregnancy
- Retrospective Studies
Citations
This article has been cited 5 times.- Valberg SJ, Henry ML, Herrick KL, Velez-Irizarry D, Finno CJ, Petersen JL. Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.. Equine Vet J 2023 Mar;55(2):230-238.
- Pinzon-Arteaga C, Snyder MD, Lazzarotto CR, Moreno NF, Juras R, Raudsepp T, Golding MC, Varner DD, Long CR. Efficient correction of a deleterious point mutation in primary horse fibroblasts with CRISPR-Cas9.. Sci Rep 2020 May 4;10(1):7411.
- Corley KTT. Metabolic disorders in foals.. Equine Vet Educ 2012 Aug;24(8):392-395.
- Hoff JL, Decker JE, Schnabel RD, Taylor JF. Candidate lethal haplotypes and causal mutations in Angus cattle.. BMC Genomics 2017 Oct 18;18(1):799.
- Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer.. Equine Vet J 2010 Oct;42(7):658-70.
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