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Role of KCNQ2 and KCNQ3 genes in juvenile idiopathic epilepsy in Arabian foals.
Abstract: Juvenile idiopathic epilepsy (JIE) in Arabian foals resembles benign-familial neonatal convulsion (BFNC) syndrome, a rare idiopathic epilepsy of new-born humans. BFNC syndrome exhibits genetic heterogeneity, as has been hypothesised to occur in Arabian foals, and is known to be caused by mutations in the voltage-gated potassium channel subunit KCNQ2 and KCNQ3 genes. The close phenotypic characteristics of both Arabian foals and children suggest these epileptic syndromes are caused by the same genetic disorder. In horses, the KCNQ2 and KCNQ3 genes are located on the terminal region of chromosomes 22 and 9, respectively, essentially homologous to their location on chromosomes 20q13.3 and 8q24 in humans. Gene trees for the KCNQ2 and KCNQ3 genes between horses and other mammals, particularly humans and mice, were constructed and compared to widely accepted mammalian phylogenetic trees. The KCNQ2 gene tree exhibited close clustering between horses and humans, relative to horses and mice, in contrast to the evolutionary trees of other mammals. Distance values between the horse and human groups were lower as opposed to those found between the horse and mouse groups. The similarity between the horse and the human, especially for the KCNQ2 gene, where the majority of mutations causing BFNC have been found, supports the hypothesis of similar heritable and genetic patterns of the disease in both species and suggests that contrary to the classic mouse-model concept, humans may be a more suitable model for the study of JIE in Arabian foals.
Copyright © 2012 Elsevier Ltd. All rights reserved.
Publication Date: 2012-11-20 PubMed ID: 23182620DOI: 10.1016/j.tvjl.2012.08.024Google 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
- Research Support
- Non-U.S. Gov't
Summary
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The research article investigates the role of two particular genes, KCNQ2 and KCNQ3, in the occurrence of juvenile idiopathic epilepsy (JIE) in Arabian foals, theorizing that these genes cause comparable epilepsy syndromes in both the foals and newborn humans.
Understanding the Research
This study primarily revolves around the connection between the cases of juvenile idiopathic epilepsy (JIE) seen in Arabian foals, and the benign-familial neonatal convulsion (BFNC) syndrome observed in newborn humans. Here are some key points to understand:
- The researchers have noticed certain similarities in the epilepsy conditions of Arabian foals and newborn humans. So, they hypothesize that these conditions are caused by the same genetic disorder, specifically mutations in the KCNQ2 and KCNQ3 genes.
- To explore this, they looked at the location of these genes in horses, which are located on the terminal region of chromosomes 22 and 9. Interestingly, they found these locations to be homologous to the position of the KCNQ2 and KCNQ3 genes on human chromosomes 20q13.3 and 8q24.
- By constructing gene trees for KCNQ2 and KCNQ3, not only among horses but also among other mammals especially humans and mice, they compared these constructed trees with previously established mammalian phylogenetic trees.
Key Findings
From their study, the researchers drew some important conclusions:
- They found that the KCNQ2 gene showed close clustering between horses and humans when compared to horses and mice. This contradicts the accepted evolutionary trees of other mammals.
- Moreover, the distance values between the horse and human groups were found to be smaller than those between the horse and mouse groups. This suggests a closer genetic relationship between horses and humans for these particular genes.
- Since the majority of mutations causing BFNC in humans have been found in the KCNQ2 gene – and considering the above findings – the researchers propose that human might be a more suitable model than mice, contrary to the classic mouse-model concept, for studying JIE in Arabian foals.
Cite This Article
APA
Lichter-Peled A, Polani S, Stanyon R, Rocchi M, Kahila Bar-Gal G.
(2012).
Role of KCNQ2 and KCNQ3 genes in juvenile idiopathic epilepsy in Arabian foals.
Vet J, 196(1), 57-63.
https://doi.org/10.1016/j.tvjl.2012.08.024 Publication
Researcher Affiliations
- The Koret School of Veterinary Medicine, The Robert H. Smith Faculty of Agriculture, Food and Environmental Sciences, The Hebrew University of Jerusalem, Rehovot 76100, Israel.
MeSH Terms
- Animals
- Base Sequence
- Epilepsy, Benign Neonatal / genetics
- Horse Diseases / genetics
- Horses
- KCNQ2 Potassium Channel / genetics
- KCNQ3 Potassium Channel / genetics
- Mutation
- Phylogeny
- Sequence Homology
Citations
This article has been cited 4 times.- 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.
- Polani S, Dean M, Lichter-Peled A, Hendrickson S, Tsang S, Fang X, Feng Y, Qiao W, Avni G, Kahila Bar-Gal G. Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy. J Genet Mutat Disord 2022 Jan;1(1).
- Lacombe VA. Seizures in horses: diagnosis and classification. Vet Med (Auckl) 2015;6:301-308.
- Aleman M, Finno CJ, Weich K, Penedo MCT. Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. J Vet Intern Med 2018 Jan;32(1):465-468.
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