Cilia and cilia-related disorders |
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| Authors: | AC Johnstone SR McGlashan RD Jolly |
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| Institution: | 1. IVABS, Institute of Veterinary, Animal and Biomedical Sciences , Massey University , Private Bag 11222, Palmerston North, New Zealand E-mail: A.C.Johnstone@massey.ac.nz;2. Department of Anatomy with Radiology, Faculty of Medical and Health Sciences , Auckland University , New Zealand |
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| Abstract: | Abstract Extract Among the puzzling aspects of the recently described autosomal recessive polycystic kidney disease (ARPKD) of sheep (Johnstone et al 2005 Johnstone, AC, Davidson, BI, Roe, AR, Eccles, MR and Jolly, RD. 2005. Congenital polycystic kidney disease in lambs. New Zealand Veterinary Journal, 53: 307–314. Taylor &; Francis Online], Web of Science ®] , Google Scholar]) 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 cili-um/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 McGlashan, SR, Poole, CA, Stayner, C, Johnstone, AC, Eccles, MR and Jensen, CG. 2005. “Primary cilia in fibrosis associated with two models of polycystic kidney disease”. In Proceedings of the 45th Annual Conference of the American Society for Cell Biology December 10–14 Google Scholar]). 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. |
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