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Gaucher disease in sheep.

23:45 EDT 31st July 2014 | BioPortfolio

Summary of "Gaucher disease in sheep."

Gaucher disease, an autosomal recessive lysosomal storage disorder caused by mutations in the β-glucocerebrosidase gene, was recently discovered in sheep on a "Southdown" sheep stud in Victoria, Australia. Clinical signs include neuropathy, thickened leathery skin, and ichthyosis, with lambs unable to stand from birth. Affected lambs were found to be deficient in glucocerebrosidase activity, and mutational analysis found them to be homozygous for the missense mutations c.1142G>A (p.C381Y) and c.1400C>T (p.P467L). In addition, four silent mutations were detected (c.777C>A [p.Y259Y], c1203A>G [p.Q401Q], c.1335T>C [p.I445I], c.1464C>G [p.L488L]). The human equivalent [C342Y] to the C381Y mutation leads to an acute neuronopathic phenotype in patients. Identification of an acute neuronopathic form of Gaucher disease in sheep provides a large animal model that will enable studies of pathology and evaluation of therapies to treat this common lysosomal storage disorder.

Affiliation

Lysosomal Diseases Research Unit, A Research Centre of SA Pathology, Women's and Children's Hospital, North Adelaide, SA, 5006, Australia, litsa.karageorgos@adelaide.edu.au.

Journal Details

This article was published in the following journal.

Name: Journal of inherited metabolic disease
ISSN: 1573-2665
Pages:

Links

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Medical and Biotech [MESH] Definitions

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An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis.

A species of NAIROVIRUS, transmitted by the ixodid ticks and producing a lethal gastroenteritis in sheep and goats. Though a major veterinary pathogen, its effect on humans has not been firmly established.

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