Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): an overview.
Multiple forms of ceroid-lipofuscinosis occur in human beings and animals. They are characterized by brain and retinal atrophy associated with selective necrosis of neurons. This neurodegenerative disease appears associated with the disease process rather than storage of fluorescent lipopigment per se, and there is now growing evidence that pathogenesis may involve mitochondria rather than a primary defect of lysosomal catabolism. Of the forms of ceroid-lipofuscinosis studied, most but not all reflect accumulation of subunit c of mitochondrial ATP synthase. If there is a common denominator between all forms other than the presence of fluorescent lipopigment, then it may be the accumulation of hydrophobic protein. Analogous diseases in animals can be expected to reflect the same spectrum of biochemical changes, and they warrant in-depth study to help understand the pathogenesis and heterogeneity of the group.
Jolly
R D
RD
Department of Veterinary Pathology and Public Health, Massey University, Palmerston North, New Zealand.
D000818:Animals; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002371:Cat Diseases; D002415:Cats; D002417:Cattle; D002418:Cattle Diseases; D004283:Dog Diseases; D004285:Dogs; D015511:Goat Diseases; D006041:Goats; D006801:Humans; D008055:Lipids / Q000032:analysis; D046911:Macromolecular Substances; D009472:Neuronal Ceroid-Lipofuscinoses / Q000378:metabolism* / Q000473:pathology* / Q000662:veterinary; D010641:Phenotype; D010860:Pigments, Biological / Q000032:analysis; D006180:Proton-Translocating ATPases / Q000378:metabolism; D012160:Retina / Q000473:pathology; D012756:Sheep; D012757:Sheep Diseases
D008055:Lipids; D046911:Macromolecular Substances; D010860:Pigments, Biological; D006180:Proton-Translocating ATPases