Cilia and cilia-related disorders (abstract)

Authors: McGlashan SR, Johnstone AC, Jolly RD
Publication: New Zealand Veterinary Journal, Volume 54, Issue 1, pp 51, Feb 2006
Publisher: Taylor and Francis

Animal type: Livestock, Production animal, Ruminant, Sheep
Subject Terms: Congenital disease, Genetics, Inherited disease/conditions, Kidney/renal disease, Pathology, Disease/defect, Urinary system/urology
Article class: Abstract

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Abstract: Among the puzzling aspects of the recently described autosomal recessive polycystic kidney disease (ARPKD) of sheep (Johnstone et al 2005) is the multiplicity of organ systems affected and the phenotypic variations that occur between the various animal species. It has been shown in studies of other inherited polycystic kidney disease syndromes that the normal gene products of a mutant are likely to be involved in ciliary structure and function. The studies that have led to this recognition can be expected to eventually provide the basis for a better understanding of the functioning of this organelle, and the pathogenesis of lesions in the related diseases.
It is well known that cilia are important in the perception of light, olfactory stimuli and sound and that motile cilia provide cell motility (e.g. sperm) and transport of mucus and other fluids. Recent research has indicated that the involvement of the primary cilium/basal body complex is of central importance in the detection and cellular response to extracellular movement of fluid, critical phases of embryonic development, cell cycle regulation and maintenance of cell polarity.
Confocal microscopic studies of renal cyst epithelium in ovine ARPKD have shown that only 30% of cells have a cilium and that these are often truncated (McGlashan et al 2005). The observation, although preliminary, strongly supports the argument that the mutant gene in this disease of sheep normally encodes for a protein essential for primary ciliary function.
References
Johnstone AC, Davidson BI, Roe AR, Eccles MR, Jolly RD. Congenital polycystic kidney disease in lambs. New Zealand Veterinary Journal 53, 307–14, 2005
McGlashan SR, Poole CA, Stayner C, Johnstone AC, Eccles MR, Jensen CG. Primary cilia in fibrosis associated with two models of polycystic kidney disease. Proceedings of the 45th Annual Conference of the American Society for Cell Biology. December 10–14, 2005

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