Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis).
Immunochemical studies demonstrate that subunit c of mitochondrial ATP synthase is stored in the late-infantile, juvenile and adult forms of Batten's disease. It does not accumulate in the infantile form, or in other conditions involving lysosomal hypertrophy. These results suggest that the defective metabolism of subunit c is central to the pathogenesis of these three forms of Batten's disease.
Hall
N A
NA
Department of Clinical Biochemistry, Institute of Child Health, London, U.K.
Lake
B D
BD
Dewji
N N
NN
Patrick
A D
AD
D000368:Aged; D000375:Aging / Q000378:metabolism; D015153:Blotting, Western; D001921:Brain / Q000201:enzymology / Q000648:ultrastructure*; D006801:Humans; D007124:Immunoenzyme Techniques; D008247:Lysosomes / Q000201:enzymology*; D046911:Macromolecular Substances; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology*; D008970:Molecular Weight; D009472:Neuronal Ceroid-Lipofuscinoses / Q000201:enzymology*; D006180:Proton-Translocating ATPases / Q000378:metabolism*; D013367:Submitochondrial Particles / Q000201:enzymology
D046911:Macromolecular Substances; D006180:Proton-Translocating ATPases