Serum hypoxanthine and xanthine concentrations in horses heterozygous for combined immunodeficiency.
Abstract: A group of diseases termed combined immunodeficiency (CID) results in a severe form of immunodeficiency. While CID in humans has two genetics bases, in Arabian it is inherited in an autosomal recessive manner. Kettler et al. (1989) determined that uric acid was significantly (p 0.05) between carrier and non-carrier horse's serum levels of hypoxanthine or xanthine. These data, combined with our previous ones suggest that an enzymatic lesion in the purine salvage pathway may occur at the urate oxidase step. ZUSAMMENFASSUNG: Serum-Hypoxanthin- und -Xanthin-Spiegel in Pferden mit Heterozygotie für kombinierte Immundefizienz Kombinierte Immundefizienz (CID), die zu einer schweren Krankheit führt, hat beim Menschen zwei genetische Ursachen, wird aber bei Araberpferden autosomal rezessiv vererbt. Kettler u. Ma. (1989) fanden den Harnsäureserumspiegel in Überträgern signifikant höher als in freien Tieren. Hier wurden mit Hypoxanthin und Xanthin zwei andere Produkte des biochemischen Pfades bestimmt, jedoch keine statistisch signifikanten Unterschiede zu Nicht-Trägern der CID gefunden. Die Ergebnisse zusammen mit unseren früheren lassen vermuten, daß der Enzymmangel im Purinpfad auf der Harnsäureoxidationsstufe existiert.
1994 Blackwell Verlag GmbH.
Publication Date: 1994-01-12 PubMed ID: 21395762DOI: 10.1111/j.1439-0388.1994.tb00448.xGoogle Scholar: Lookup
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Summary
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The research paper examines the link between concentrations of certain biochemical compounds in the bloodstreams of horses, particularly Arabian horses, who carry the gene for combined immunodeficiency disease (CID). However, no significant difference was found when comparing the levels in carrier and non-carrier horses.
Introduction to Combined Immunodeficiency (CID)
- Combined immunodeficiency (CID) is a categorization of diseases that severely impact the immune system.
- Working in a different genetically recessive manner compared to humans, this disease in Arabian horses is particularly severe.
- The underlying genetics of these diseases are different between humans and Arabian horses.
The Role of Biochemical Compounds
- Prior studies have suggested a correlation between the levels of uric acid, a biochemical product, in the serum of carrier Arabian horses and the presence of the CID gene.
- Unlike non-carrier horses, carrier horses have been found to have significantly higher levels of uric acid.
Current Study: Investigating Hypoxanthine and Xanthine
- In this study, the researchers concentrated on two other biochemical products, namely hypoxanthine and xanthine, which are also part of the same biochemical pathway.
- The levels of hypoxanthine and xanthine in the serum of both carrier and non-carrier horses were measured.
- Contrary to the results obtained with uric acid, no significant variance was recorded between the serum levels of hypoxanthine or xanthine in carrier and non-carrier horses.
Interpretation and Conclusion
- By synthesizing their own research findings with those of prior studies, the authors propose that the increased uric acid levels seen in carrier Arabian horses may be due to a metabolic defect specifically at the urate oxidase step of the purine salvage pathway.
- This pathway is essential for recycling purine molecules, which are key constituents of DNA.
- Therefore, any dysfunctional lesion or interruption at this stage could lead to an accumulation of uric acid, causing its levels to increase in the horse’s bloodstream.
Cite This Article
APA
Kettler MK, Weil MR, Mascotti K, Perryman LE.
(1994).
Serum hypoxanthine and xanthine concentrations in horses heterozygous for combined immunodeficiency.
J Anim Breed Genet, 111(1-6), 148-151.
https://doi.org/10.1111/j.1439-0388.1994.tb00448.x Publication
Researcher Affiliations
- Department of Biology, University of Wisconsin-Eau Claire, Eau Claire, Wisconsin, USA.
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