Study to explore muscle diseases in horses

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Researchers are focusing on genetic and management factors that influencing equine muscle disease. File image.

A study is under way into muscle diseases in horses, in the hopes of learning more about how genetics, diet and exercise affect them.

It is hoped the results will help veterinarians, researchers,and horse owners develop treatment strategies to combat what the researchers described as a widespread problem.

The work, to be undertaken by a study team at the University of Minnesota College of Veterinary Medicine, will be the largest crowd-sourced study in the veterinary school’s history.

The researchers are focusing on genetic and management factors that influence equine muscle disease.

“Muscle diseases are some of the most common health issues horses face, with more than 250,000 horses in the US afflicted each year,” says principal investigator Molly McCue, a professor in the Department of Veterinary Population Medicine and associate dean of research at the vet school.

Horses with muscle disease often exhibit muscle pain, stiffness, and a reluctance to move.

The research team hopes to leverage its longstanding expertise in genetic and muscle disease research to identify which specific genetic mutations predispose a horse to muscle disease, and advance therapies.

“We are turning to our expansive network of cases to help us respond to this far-reaching challenge in equine veterinary medicine,” McCue says.

Submitting a horse with suspected or diagnosed muscle disease to the study is a four-part process, involving the supplementary submission of a horse residing on the same property without a suspected or diagnosed muscle disease to act as the control.

On the study’s website, the researchers note the increased commercial interest in the rapid development and marketing of genetic tests for horses, and the importance of getting it right.

Whole-genome sequencing, specifically, is capable of identifying many dozens of alleles with predicted effects on protein structure or function that may or may not contribute to disease.

“However, it is critical that researchers conclusively demonstrate that tests based on alleles identified only by whole genome sequencing are disease-causing,” they say.

“The development and marketing of genetic tests based only on predicted effects of the allele on a protein, with incomplete assessment or acquisition of other genetic, informatic and experimental evidence, has important implications and consequences.

“False assignment of alleles as disease-causing and commercialization of genetic tests that are incompletely validated can have severe consequences for horses, horse owners and veterinarians and can result in incorrect diagnosis and prognosis, inappropriate treatment and management of affected individuals, poor breeding decisions, and a loss of public confidence in genetic testing and genetic research.”

Diseases that were once assumed to be simple Mendelian traits are often more complicated than previously thought.

“Only by considering the possible impact of all potential risk and disease-modifying alleles, environmental factors, as well as likely clinical outcomes based on genetic background, can appropriate decisions be made by owners, veterinarians and breeders.”

All information regarding submitting a horse to this study, frequently asked questions, and details behind the study can be found on the study’s website.

Study updates will be posted on the Equine Genetics and Genomics Laboratory Facebook page.

The study is funded in part by a grant from Morris Animal Foundation, as well as support from private donors.

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