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Étude de la myopathie héréditaire par surcharge en polysaccharides chez les chevaux Cob normand

Abstract : The genetic basis of predisposition to the polysaccharide storage myopathy (PSSM) was investigated in the horse. PSSM is one of the causes of “tying-up” syndrome developed by draught breeds : lower performances, lameness, cramps, myoglobinurie. The phenotype of the affection was better defined in terms of epidemiology, lesions and pathogenesis. Functional analysis of gene expression in affected muscles revealed an inflammation, an inhibition of the mitochondria activity, an energetic metabolism disorder and an hypoxia. The structural and functional characterisation of the glycogen debranching enzyme gene (AGL) revealed a new equine splice variant. An association study between the phenotype and polymorphisms in four candidate genes confirmed the origin of this myopathy : a new single base mutation in the muscle glycogen synthase gene (GYS1). This new type of glycogenosis behaves as an autosomal dominant trait.
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https://tel.archives-ouvertes.fr/tel-00411522
Contributor : Bérénice Herszberg <>
Submitted on : Thursday, August 27, 2009 - 7:22:03 PM
Last modification on : Friday, October 23, 2020 - 4:37:46 PM
Long-term archiving on: : Tuesday, September 18, 2012 - 1:00:10 PM

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  • HAL Id : tel-00411522, version 1
  • PRODINRA : 330736

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Bérénice Herszberg. Étude de la myopathie héréditaire par surcharge en polysaccharides chez les chevaux Cob normand. Biochimie [q-bio.BM]. Université de Versailles-Saint Quentin en Yvelines, 2008. Français. ⟨tel-00411522⟩

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