Polysaccharide Storage Myopathy (PSSM) - a genetically determined disease in horses.

Abstract In Romanian horse breeds there is little information about Polysaccharide Storage Myopathy disease and therefore the objective of this study was to do a first evaluation of two indigenous horse breeds for presence of polymorphism in the GYS1 gene, associated with the disease. In this purpose, a number of 14 biological samples were collected from two breeds : Semigreu Romanesc and Lipitan. The genomic DNA was isolated from hair samples with Quick-gDNA Mini Prep kit, according to the manufacturer’s protocol. A 229 bp fragment, targeting the polymorphic region of GYS1 gene, was amplified with a set of specific primers and the PCR products were digested with HpyCH4 V restriction enzyme. The resulting fragments were separated in 3% agarose gel. Two fragments, of 151 and 78 bp, which correspond to the GG genotype, were identified, while four fragments (151, 97, 78 and 54 bp) were obtained in the case of heterozygous AG genotypes. All analysed Lipitan horses were homozygous for the G allele, while all Semigreul Romanesc horses were heterozygous, carrying the A allele which are associated with PSSM. To establish more accurate results in Romanian horse breeds, further studies, on a larger number of horses, are needed.