Presence of the glycogen synthase 1 (GYS1) mutation causing type 1 polysaccharide storage myopathy in continental European draught horse breeds.

This research article investigates the presence of a certain mutation in the glycogen synthase 1 gene (GYS1) that causes type 1 polysaccharide storage myopathy in multiple European draught horse breeds. The study discovered that 62% of the tested horses, from various breeds and countries, carry this mutation.

Objective of the Research

• The main aim of the study was to identify which European draught horse breeds carry the GYS1 mutation, which is known to cause type 1 polysaccharide storage myopathy. This is a neuromuscular disorder found commonly in quarter horses and North American draught horses.

Methodology and Sample Collection

• The researchers carried out a non-random selection of horses belonging to 13 different breeds from several European countries including Belgium, France, Germany, The Netherlands, Spain, and Sweden.
• A total of 403 horses were used in the study, out of which 62% (250 horses) were found to carry the mutant allele.

Findings of the Research

• The mutation was found to be present in animals across all breeds examined in the study, highlighting widespread prevalence of the mutation in continental European breeds.
• In the breeds where more than 15 animals were tested, the Belgian trekpaard had the highest percentage of GYS1-positive horses at 92%, followed by the Comtois breed at 80%, the Netherlands trekpaard at 74%, the Rheinisch-Deutsches Kaltblut at 68%, and finally the Breton breed at 64%.
• These findings suggested that the mutation was not exclusive to a specific breed but was distributed widely among the different breeds tested.

Significance of the Study

• The research provided valuable insights into the genetic health of European draught horses, highlighting the extensive presence of GYS1 mutation that leads to type 1 polysaccharide storage myopathy.
• These findings could potentially encourage further research focusing on the impact of this mutation on the health and performance of the horses, and lead to strategies aimed at preserving genetic health and diversity in these breeds.