Susan Piripi

Doctor of Philosophy, (Veterinary Pathology)
Study Completed: 2008
College of Sciences

Citation

Thesis Title
Chondrodysplasia of Texel Sheep

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Ms Piripi investigated chondrodysplasia of Texel sheep, a newly described recessively inherited disorder of cartilage with similarities to various forms of dwarfism in children. Within the first few weeks of life, affected lambs develop short, bent limbs, a wide-based stance and a barrel-shaped chest. The trachea is narrow and twisted and in severe cases there is erosion of articular cartilage in major joints. Chondrodysplasia of Texel sheep may result from abnormal cartilage sulphation. Although the disease appears similar to human diseases caused by defective cellular sulphate uptake, genetic and cell-culture studies found no evidence for a mutation in the same gene in affected sheep. The findings suggested that a mutation in the gene CHST11 may be responsible for chondrodysplasia in Texel sheep. This ovine disease has potential for use as a model for studying treatment options in human patients.

Supervisors
Professor Keith Thompson
Professor Hugh Blair
Professor Elwyn Firth