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Journal of equine veterinary science2018; 68; 55-58; doi: 10.1016/j.jevs.2018.05.210

Molecular Detection of Severe Combined Immunodeficiency Disorder in Arabian Horses in Egypt.

Abstract: Severe combined immunodeficiency (SCID) is a fatal genetic disorder and one of the common genetic diseases of the Arabian horse. The genetic mutation responsible for this disease is a five base pair deletion (TCTCA) in the DNA-protein kinase catalytic subunit gene. Severe combined immunodeficiency is a recessive autosomal genetic disorder with 25% chance inheritance of the disease among the progeny of carrier parents. It causes complete absence of certain immune cells, like B and T lymphocytes, leaving foals with immunodeficiency and exposing them to early death within 4 to 6 months. This study aimed to establish a reliable DNA test for detection of asymptomatic SCID carriers in the Egyptian Arabian horse population and to re-examine cases of unexplained foal death to exclude presence of SCID disease. Samples collected from live horses were chosen at random from the registered population, as well as postmortem samples from reported cases died at different ages in Arabian farms. Among these samples, we did not identify SCID carriers. Improved SCID diagnostic assays will help in selection within breeding programs to avoid carrier-to-carrier mating and the birth of clinically affected foals. This will have a positive effect on the financial value of Arabian horse production by decreasing economic losses due to affected foal deaths, extended veterinary care, and intensive but futile treatments. Application of the DNA test overall Egyptian population is recommended.
Publication Date: 2018-05-26 PubMed ID: 31256889DOI: 10.1016/j.jevs.2018.05.210Google Scholar: Lookup
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  • Journal Article

Summary

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The study focused on developing a dependable DNA test for the detection of severe combined immunodeficiency (SCID), a lethal genetic disorder, in Arabian horses in Egypt with the purpose of reducing losses due to foal deaths and extensive veterinary care costs.

Background

  • Severe combined immunodeficiency (SCID) is a fatal genetic disorder which is relatively common in Arabian horses. It is caused by a five base pair deletion (TCTCA) in a specific gene in the horse’s DNA.
  • The disease is an autosomal recessive disorder, making it a 25% chance of a horse inheriting the disease if both its parents are carriers.
  • SCID results in the absence of certain crucial immune cells, leaving young horses defenseless against infections, likely leading to death within 4 to 6 months.

Objective

  • The main aim of this study was to develop a reliable DNA test for the early detection of SCID in Egyptian Arabian horses, including those who do not display symptoms but are carriers of the disease.
  • The researchers also wanted to investigate unexplained deaths of foals to rule out SCID as a possible cause.

Methodology

  • The team extracted samples from randomly selected living horses in Egypt’s registered Arabian horse population.
  • Postmortem samples were also taken from horses of different ages that had died on Arabian farms, for various reasons.

Findings

  • The tests conducted using the aforementioned samples did not reveal any SCID carriers.

Implications and Recommendations

  • The development of more effective diagnostic methods for SCID can significantly contribute to selective breeding programs. This will in-turn help to prevent mating between carriers and consequently reduce the birth of diseased foals.
  • This can have important economic benefits by reducing the financial losses associated with the death of foals affected by SCID, costly veterinary care, and ineffective treatments.
  • Therefore, the researchers recommend the implementation of this DNA test across the entire Egyptian horse population.

Cite This Article

APA
AbouEl Ela NA, El-Nesr KA, Ahmed HA, Brooks SA. (2018). Molecular Detection of Severe Combined Immunodeficiency Disorder in Arabian Horses in Egypt. J Equine Vet Sci, 68, 55-58. https://doi.org/10.1016/j.jevs.2018.05.210

Publication

ISSN: 0737-0806
NlmUniqueID: 8216840
Country: United States
Language: English
Volume: 68
Pages: 55-58
PII: S0737-0806(18)30151-5

Researcher Affiliations

AbouEl Ela, Nahla A
  • Genome Research Unit, Animal Health Research Institute, Dokki, Giza, Egypt; Biotechnology and Life Science Department, Faculty of Postgraduate Studies for Advanced Sciences, Beni-Suef University, Beni-Suef, Egypt. Electronic address: Nahla_aboelela@yahoo.com.
El-Nesr, Khalid A
  • Biotechnology and Life Science Department, Faculty of Postgraduate Studies for Advanced Sciences, Beni-Suef University, Beni-Suef, Egypt; Pathology Department, Faculty of Veterinary Medicine, Beni-Suef University, Beni-Suef, Egypt.
Ahmed, Hanaa A
  • Genome Research Unit, Animal Health Research Institute, Dokki, Giza, Egypt.
Brooks, Samantha A
  • Department of Animal Sciences, University of Florida, Gainesville, FL.

Citations

This article has been cited 1 times.
  1. Ayad A, Almarzook S, Besseboua O, Aissanou S, Piórkowska K, Musiał AD, Stefaniuk-Szmukier M, Ropka-Molik K. Investigation of Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) Variants in a Cohort of Three MENA Region Horse Breeds. Genes (Basel) 2021 Nov 26;12(12).
    doi: 10.3390/genes12121893pubmed: 34946842google scholar: lookup