MCT1, MCT4 and CD147 gene polymorphisms in healthy horses and horses with myopathy

A. K. Mykkanen, N. M. Koho, M. Reeben, C. M. McGowan, A. R. Pösö

Research output: Contribution to journalArticleScientificpeer-review


Reasons for performing study: Monocarboxylate transporters (MCTs) transport lactate together with protons across membranes. In equine muscle, isoforms MCT1 and MCT4 are present, along with their ancillary protein CD147. Mutations of MCTs have been described in humans as one cause of exertional rhabdomyolysis. While preliminary research has been performed on equine MCT1 and CD147, further research on larger numbers of horses, including polymorphisms of MCT4 is warranted.
Hypothesis: We hypothesized, that mutation(s) in the coding sequence of MCT1, MCT4 or the ancillary protein CD147 might affect lactate transport activity in muscle of horses causing signs of recurrent myopathy.
Methods: Muscle biopsies were taken from 26 horses, that had owner-reported exercise-induced recurrent myopathy signs, and 16 control horses. RNA was isolated for cDNA sequencing.
Results: PCR fragments studied covered 99% of MCT1, 97% of CD147 and the whole MCT4 amino acid sequence. One new polymorphism was demonstrated in a trans-membrane domain of MCT1 causing an amino acid change. This mutation could not be linked with signs of myopathy.
Conclusions: Mutations in lactate transporters in equine muscle causing exercise-induced rhabdomyolysis were rare in this group of horses and were not associated with exercise induced rhabdomyolysis. Heritable exercise induced rhabdomyolysis in horses may be associated with gene mutations that have not been described in other species. The molecular probes produced may in future be useful as tools to study mutations in lactate transporters of equine muscle.
Original languageEnglish
JournalResearch in Veterinary Science
Issue number3
Pages (from-to)473-477
Number of pages5
Publication statusPublished - 2011
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 413 Veterinary science

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