Genetic background of the Transylvanian endemic equine recurrent rhabdomyolysis.

Kósa, Csaba Attila and Szenci, Ottó and Lénárt, Lea and Biksi, Imre and Szép, Róbert and Keresztesi, Ágnes and Mircean, Mircea and Taulescu, Marian and Korbacska-Kutasi, Orsolya (2026) Genetic background of the Transylvanian endemic equine recurrent rhabdomyolysis. ACTA VETERINARIA HUNGARICA, 74 (2). pp. 72-81. ISSN 0236-6290

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Abstract

To investigate the pathophysiology, prevalence and severity of equine exertional rhabdomyolysis in a mountainous region of Transylvania, Romania, this study considered genetic and histological factors. We determined the occurrence and frequency of a mutation in the glycogen synthase gene 1 (GYS1), associated with equine polysaccharide storage myopathy type 1 (PSSM1), in two adjacent populations, one with a significantly high prevalence of the disease (high altitude villages, HV) and the other with a rare prevalence (valley villages, VV). We genotyped GYS1 in 41 animals (HV = 31, VV = 10) and found a significant difference in the appearance of GYS1-positive animals in the HV region. Histological lesions of animals (n = 6) with and without muscle disorders of the two populations were examined. We demonstrated a significant association between the number of rhabdomyolysis episodes and GYS1 mutation (P = 0.03) and positive amylase-resistant PAS staining (P = 0.01). Nevertheless, the correlation between GYS1 mutation and PAS staining was weak (P = 0.06). These studies further confirm the versatile and complex nature of muscle disease in this region.

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