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Equine diseases caused by known genetic mutations.
Abstract: The recent development of equine genome maps by the equine genome community and the complete sequencing of the horse genome performed at the Broad Institute have accelerated the pace of genetic discovery. This review focuses on genetic diseases in the horse for which a mutation is currently known, including hyperkalemic periodic paralysis, severe combined immunodeficiency, overo lethal white syndrome, junctional epidermolysis bullosa, glycogen branching enzyme deficiency, malignant hyperthermia, hereditary equine regional dermal asthenia, and polysaccharide storage myopathy. Emphasis is placed on the prevalence, clinical signs, etiology, diagnosis, treatment and prognosis for each disease.
Publication Date: 2008-05-09 PubMed ID: 18472287DOI: 10.1016/j.tvjl.2008.03.016Google Scholar: Lookup The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
- Journal Article
- Review
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.
This research article is focused on understanding diseases in horses that are caused by known genetic mutations and the recent advancements made possible by advancements in genome mapping and sequencing.
Introduction
- The research focuses primarily on understanding the genetic diseases that afflict horses. This becomes important thanks to the recent strides made in creating genome maps and complete sequencing of horse genomes.
- The genetic diseases for which mutations were already known before the advent of these techniques were the focal point of this research.
Key Diseases Examined
- Various diseases were considered including hyperkalemic periodic paralysis, severe combined immunodeficiency, overo lethal white syndrome, junctional epidermolysis bullosa, glycogen branching enzyme deficiency, malignant hyperthermia, hereditary equine regional dermal asthenia, and polysaccharide storage myopathy.
- By understanding the genetic pathologies and their manifestations, the researchers aimed to uncover links between the genomic mutations and symptoms of these diseases.
Focus of the Review
- The focus of this work was on the prevalence, clinical signs, etiology, diagnosis, and treatment, as well as prognosis for each of the above-mentioned diseases.
- Such detailed analysis is essential to help in the creation of potential treatments or crisis management processes, thus reducing the impact of these diseases on the global horse population.
Implications
- The research is important in genetic studies, as it involves the usage of the latest genetic mapping and sequencing techniques, combined with a focus on a subject of considerable genetic diversity – horses.
- The work contributes to understanding the link between genetic mutations and diseases, thereby having potential implications for the prevention, treatment, and management of these conditions.
Cite This Article
APA
Finno CJ, Spier SJ, Valberg SJ.
(2008).
Equine diseases caused by known genetic mutations.
Vet J, 179(3), 336-347.
https://doi.org/10.1016/j.tvjl.2008.03.016 Publication
Researcher Affiliations
- Veterinary Medical Teaching Hospital, University of California, Davis, CA 95616, USA. cjfinno@vmth.ucdavis.edu
MeSH Terms
- Animals
- Chromosome Mapping / veterinary
- Female
- Genetic Predisposition to Disease
- Horse Diseases / diagnosis
- Horse Diseases / epidemiology
- Horse Diseases / genetics
- Horses
- Male
- Mutation
- Prevalence
- Prognosis
References
This article includes 83 references
Citations
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