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Research Article – Tay-Sachs disease in Jacob sheep

It has been found that Tay-Sachs occurs naturally in Jacob sheep. In December 2010 “Tay-Sachs disease in Jacob sheep” (Torresa, Zenga, Porterb, Alroyc, F. Horkad, J. Horkad and Kolodnya 2010) was published in Molecular Genetics and Metabolism which looked at the disease occurring in an animal model.

The research article objectives

Autopsy studies of four Jacob sheep dying within their first 6-8 months of a progressive neurodegenerative disorder suggested the presence of a neuronal storage disease (Torresa et al 2010). The study was undertaken to determine the cause of this neurodegeneration and whether a neuronal storage disease was present in the Jacob sheep

You can read an online version of the research articles abstract by either clicking on the image below or you can access it here.

Tay-Sachs disease in Jacob sheep

The research article conclusion

Torresa et al (2010) conclude that this large naturally occurring animal model of Tay-Sachs disease (in the Jacob sheep) is the first to offer promise as a means for trials of gene therapy applicable to human infants.

Source: Paola A. Torresa, Bai Jin Zenga, Brian F. Porterb, Joseph Alroyc, Fred Horakd, Joan Horakd and Edwin H. Kolodnya. (2010). Tay-Sachs disease in Jacob sheep. Molecular Genetics and Metabolism. Volume 101, Issue 4, December 2010, Pages 357–363. Originally published online 14 August 2010. DOI: 10.1016/j.ymgme.2010.08.006

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