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Home / Equine Research Bank / J Vet Intern Med / Investigation of Known Genetic Mutations of Arabian Horses i...
Journal of veterinary internal medicine2017; 32(1); 465-468; doi: 10.1111/jvim.14873

Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy.

Abstract: The carrier status of lavender foal syndrome (LFS), cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID), and occipitoatlantoaxial malformation (OAAM1) in foals with juvenile idiopathic epilepsy (JIE) is unknown. Objective: To determine the carrier status of LFS, CA, SCID, and OAAM1 in foals with JIE. Methods: Ten foals with JIE. Methods: Archived DNA samples were tested for known genetic mutations causing LFS, CA, SCID, and OAAM1. The inclusion criteria consisted of having been diagnosed with JIE by ruling out other causes of seizures in foals and supported by electroencephalographic examination. Results: Ten Egyptian Arabian horses (5 females and 5 males) were phenotyped as foals with JIE by electroencephalography (EEG). All foals were negative for the genetic mutations that cause LFS, CA, SCID, and OAAM1 except for 1 foal that was a carrier of CA. Conclusions: Juvenile idiopathic epilepsy of Egyptian Arabian foals and LFS appear to be phenotypically and genetically distinct disorders. There was no apparent association between JIE and LFS, CA, SCID, and OAAM1.
Copyright © 2017 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.
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Publication Date: 2017-11-24 PubMed ID: 29171123PubMed Central: PMC5787150DOI: 10.1111/jvim.14873Google Scholar: Lookup
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  • Journal Article

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research investigated whether known genetic mutations in Arabian horses, such as Lavender Foal Syndrome (LFS), Cerebellar Abiotrophy (CA), Severe Combined Immunodeficiency (SCID), and Occipitoatlantoaxial malformation (OAAM1) are carried by Arabian foals diagnosed with juvenile idiopathic epilepsy (JIE) in Egypt. Among the ten foals tested, none showed genetic mutations correlated with the aforementioned diseases, except one foal who was a carrier of CA, suggesting that JIE and the genetic disorders are distinct and unassociated.

Study Goals

The main objective of the study was to ascertain if certain known genetic mutations, specifically LFS, CA, SCID, OAAM1 found in Arabian horses, are also present in Egyptian Arabian foals diagnosed with Juvenile Idiopathic Epilepsy (JIE).

Methodology

  • The study involved ten foals that had been diagnosed with JIE. Their diagnosis was confirmed by ruling out other potential causes of seizures and using electroencephalographic (EEG) examination for further support.
  • The genetic material of these foals was extracted from their archived DNA samples. These samples were then tested for known genetic mutations that cause LFS, CA, SCID, and OAAM1.

Results of the Study

  • The test subjects included ten Egyptian Arabian horses consisting of five females and five males. They were all phenotyped as foals with JIE based on their EEG results.
  • The results indicated that all the foals were negative for the genetic mutations causing LFS, CA, SCID, and OAAM1. However, one of the foals tested was found to be a carrier of the CA mutation.

Conclusion

  • The lack of evidence supporting a link between JIE and the tested genetic disorders implies that these conditions are phenotypically and genetically distinct.
  • Therefore, the researchers concluded that there is no notable association between Juvenile Idiopathic Epilepsy in Egyptian Arabian foals and the genetic mutations for LFS, CA, SCID, and OAAM1.

Cite This Article

APA
Aleman M, Finno CJ, Weich K, Penedo MCT. (2017). Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. J Vet Intern Med, 32(1), 465-468. https://doi.org/10.1111/jvim.14873

Publication

Journal of veterinary internal medicine
ISSN: 1939-1676
NlmUniqueID: 8708660
Country: United States
Language: English
Volume: 32
Issue: 1
Pages: 465-468

Researcher Affiliations

Aleman, M
  • Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California Davis, Davis, CA.
Finno, C J
  • School of Veterinary Medicine, Population Health and Reproduction, University of California Davis, Davis, CA.
Weich, K
  • Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California Davis, Davis, CA.
Penedo, M C T
  • School of Veterinary Medicine, Veterinary Genetics Laboratory, University of California Davis, Davis, CA.

MeSH Terms

  • Animals
  • Epilepsy / genetics
  • Epilepsy / veterinary
  • Female
  • Genetic Predisposition to Disease
  • Heterozygote
  • Horse Diseases / epidemiology
  • Horse Diseases / genetics
  • Horses
  • Male

Conflict of Interest Statement

Authors declare no conflict of interest.

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Citations

This article has been cited 5 times.
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  2. Aleman M, Benini R, Elestwani S, Vinardell T. Juvenile idiopathic epilepsy in Egyptian Arabian foals, a potential animal model of self-limited epilepsy in children. J Vet Intern Med 2024 Jan-Feb;38(1):449-459.
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  3. van der Vossen N, Cavalcante P, Glynn S, Achappa D, Mehmood W, Oikawa M, Vinardell T, Jamieson C. A case-control study of atypical guttural pouch empyema in Arabian foals. Vet Med Sci 2023 Jul;9(4):1599-1609.
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