Researchers Find Molecular Mechanisms Behind PSSM1

This could allow improved treatments and management for the disorder, as well as improved welfare for affected horses.
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Researchers in the Royal Veterinary College (RVC) Comparative Neuromuscular Diseases Laboratory, in the United Kingdom, and colleagues have discovered an answer to the long unsolved question about the molecular mechanism which underpins a common form of tying up in horses.

This breakthrough is enabling the team at the RVC to work towards improved treatments and management for this disorder, to improve the welfare of affected horses.

This form of tying up, scientifically known as Type 1 Polysaccharide Storage Myopathy (PSSM1), is a common condition that damages equine muscle tissue. The genetic cause of PSSM1 was discovered in 2008 at the University of Minnesota, where researchers found that affected animals have a mutation of a key enzyme (glycogen synthase) involved in energy metabolism in muscle and increased storage of glycogen and an abnormal type of polysaccharide (a form of carbohydrate). Horses that carry the mutation are prone to tying up and other muscle problems such as weakness.

However, the precise mechanism by which the mutation caused increased enzyme activity in muscles remained unclear. So, Charlotte Maile, BVetMed, BSc, PhD, MRCVS, and Richard Piercy, MA, VetMB, MS, PhD, Dipl. ACVIM, MRCVS, at the RVC led an international team of scientists from the University of Copenhagen, University of Minnesota, Indiana University School of Medicine, and Liverpool John Moore’s University, to discover the answer

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