MCT1, MCT4 and CD147 gene polymorphisms in healthy horses and horses with myopathy.
Abstract: Polymorphisms in human lactate transporter proteins (monocarboxylate transporters; MCTs), especially the MCT1 isoform, can affect lactate transport activity and cause signs of exercise-induced myopathy. Muscles express MCT1, MCT4 and CD147, an ancillary protein, indispensable for the activity of MCT1 and MCT4. We sequenced the coding sequence (cDNA) of horse MCT4 for the first time and examined polymorphisms in the cDNA of MCT1, MCT4 and CD147 of 16 healthy horses. To study whether signs of myopathy are linked to the polymorphisms, biopsy samples were taken from 26 horses with exercise-induced recurrent myopathy. Two polymorphisms that cause a change in amino acid sequence were found in MCT1 (Val(432)Ile and Lys(457)Gln) and one in CD147 (Met(125)Val). All polymorphisms in MCT4 were silent. Mutations in MCT1 or CD147 in equine muscle were not associated with myopathy. In the future, a functional study design is needed to evaluate the physiological role of the polymorphisms found.
Copyright © 2010 Elsevier Ltd. All rights reserved.
Publication Date: 2010-10-30 PubMed ID: 21036377DOI: 10.1016/j.rvsc.2010.09.025Google 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 investigates the genetic variants (polymorphisms) related to lactate transporter proteins in horses, namely MCT1, MCT4, and CD147, and explores their potential links with exercise-induced muscle disease (myopathy).
Research Focus and Methods
In this study, researchers examined the coding sequence (cDNA) of horse lactate transport proteins — MCT1, MCT4, and CD147 — and looked for polymorphisms, which are genetic variations in DNA. These transport proteins are crucial for lactate transportation in the body, and variations in these genes can affect their function, potentially leading to exercise-induced myopathy.
- The study involved sequencing the cDNA of MCT4 in horses for the first time.
- 16 healthy horses were involved in examining polymorphisms in these protein-encoding genes.
- The researchers also took biopsy samples from 26 horses who showed signs of exercise-induced recurrent myopathy to investigate if there is an association between this condition and genetic variants found in these transporter genes.
Results
The results suggest various polymorphisms existed within the genes encoding these lactate transport proteins.
- Two polymorphisms causing an amino acid sequence change were found in MCT1, where valine (Val) at position 432 changed to isoleucine (Ile), and lysine (Lys) at position 457 altered to glutamine (Gln).
- One polymorphism causing an amino acid sequence change was identified in CD147, where methionine (Met) at position 125 changed to valine (Val).
- However, all the polymorphisms found in MCT4 were silent, meaning they did not affect protein function, and they did not alter the amino acid sequence.
Final Conclusions
The researchers concluded that there is no apparent link between the identified genetic variants of MCT1, MCT4, or CD147 and muscle disease in horses.
- None of the mutations that were discovered in MCT1 or CD147 in equine muscles were associated with myopathy.
- The researchers support the need for future studies aimed at evaluating the physiological role of these polymorphisms, suggesting a functional study design for this purpose.
Cite This Article
APA
Mykkänen AK, Koho NM, Reeben M, McGowan CM, Pösö AR.
(2010).
MCT1, MCT4 and CD147 gene polymorphisms in healthy horses and horses with myopathy.
Res Vet Sci, 91(3), 473-477.
https://doi.org/10.1016/j.rvsc.2010.09.025 Publication
Researcher Affiliations
- Department of Veterinary Biosciences, P.O. Box 66, University of Helsinki, 00014 Helsinki, Finland. anna.mykkanen@helsinki.fi
MeSH Terms
- Amino Acid Sequence
- Animals
- Basigin / genetics
- Basigin / metabolism
- Biological Transport
- Female
- Gene Expression Regulation
- Horse Diseases / genetics
- Horses
- Lactic Acid / metabolism
- Male
- Monocarboxylic Acid Transporters / genetics
- Monocarboxylic Acid Transporters / metabolism
- Muscular Diseases / genetics
- Muscular Diseases / veterinary
- Mutation
- Physical Conditioning, Animal / physiology
- Polymorphism, Genetic
Citations
This article has been cited 2 times.- Payen VL, Mina E, Van Hée VF, Porporato PE, Sonveaux P. Monocarboxylate transporters in cancer. Mol Metab 2020 Mar;33:48-66.
- Lv Q, Xu J, Hu N, Zhao Y, Wang X, Wang T, Tian L. Lactylation modification in lung cancer: A review of current research and future directions (Review). Oncol Rep 2025 Nov;54(5).
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