Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease).
Since the discovery of mitochondrial ATP synthase subunit c storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease), it has been found that other hydrophobic proteins also accumulate in different forms. Costorage of subunit c of vacuolar ATPase is observed in "mnd/mnd" mice and in English Setters, Border Collies and Tibetan Terriers. A small amount is stored in the ovine disease and none in the human late-infantile disease. It is a storage body matrix component. An additional 8 kDa component immunoreactive to vacuolar ATPase subunit c antibodies is found in brain-derived storage bodies. The sphingolipid activator proteins, SAPs A and D, are stored in the human infantile disease and a form in Miniature Schnauzer dogs, but neither of the c subunits are. These results suggest two classes of NCL, the subunit c-storing diseases, related by a series of lesions in a subunit c-turnover pathway, and the SAP-storing diseases.
Palmer
D N
DN
Centre for Molecular Biology, Lincoln University, New Zealand.
Jolly
R D
RD
van Mil
H C
HC
Tyynelä
J
J
Westlake
V J
VJ
D025181:ATP Synthetase Complexes; D000251:Adenosine Triphosphatases / Q000378:metabolism; D000293:Adolescent; D000818:Animals; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004285:Dogs; D005260:Female; D006023:Glycoproteins / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D051379:Mice; D008818:Mice, Neurologic Mutants; D008854:Microscopy, Electron; D009097:Multienzyme Complexes / Q000502:physiology*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology*; D017856:Phosphotransferases (Phosphate Group Acceptor) / Q000502:physiology*; D049231:Saposins; D012756:Sheep; D013045:Species Specificity; D049128:Sphingolipid Activator Proteins; D014617:Vacuoles / Q000473:pathology
D006023:Glycoproteins; D009097:Multienzyme Complexes; C483345:PSAP protein, human; C483344:Psap protein, mouse; D049231:Saposins; D049128:Sphingolipid Activator Proteins; D025181:ATP Synthetase Complexes; D017856:Phosphotransferases (Phosphate Group Acceptor); D000251:Adenosine Triphosphatases