Abstract
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. Co-storage 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.
Key words
ATP synthase - Vacuolar ATPase - Subunit c - Sphingolipid activator proteins - SAPs
