title: The ovine model of neuronal ceroid lipofuscinosis (NCL): its contribution to understanding the pathogenesis of Batten disease.
abstract: Development of the ovine model of NCL has been pivotal to our present understanding of the ceroid lipofuscinoses. Analyses of isolated storage product have shown it to be composed of identifiable chemical species of which subunit c of mitochondrial ATP synthase is dominant (ca 50%). It is an extremely hydrophobic protein and failure to catabolise it may be associated with a propensity to form paracrystalline structures with lipids that cannot be degraded by the normal complement of lysosomal enzymes. However, the putative biochemical defect must be related to it and may reside within the mitochondria. Multiple copies of subunit c help form the transmembrane Fo complex which, with partially immobilised lipids, forms an Fo complex domain. This may need to be disassembled in an orderly fashion before proteolysis of subunit c can occur. It is postulated that the primary defect may involve disassembly of the Fo complex domain which may involve more than one step.
authors.affiliation: Department of Veterinary Pathology and Public Health, Massey University, Palmerston North, New Zealand.
authors.forename: R D
authors.initials: RD
authors.lastname: Jolly
mesh_terms: D025181:ATP Synthetase Complexes; D000293:Adolescent; D000818:Animals; D002648:Child; D002675:Child, Preschool; D004195:Disease Models, Animal; D006801:Humans; D007223:Infant; D008247:Lysosomes / Q000201:enzymology; D008563:Membrane Lipids / Q000378:metabolism; D008928:Mitochondria / Q000201:enzymology; D009097:Multienzyme Complexes / Q000235:genetics* / Q000378:metabolism; D009472:Neuronal Ceroid-Lipofuscinoses / Q000201:enzymology / Q000235:genetics*; D017856:Phosphotransferases (Phosphate Group Acceptor) / Q000235:genetics* / Q000378:metabolism; D012756:Sheep
chemical_list: D008563:Membrane Lipids; D009097:Multienzyme Complexes; D025181:ATP Synthetase Complexes; D017856:Phosphotransferases (Phosphate Group Acceptor)