Increased expression of subunit c of mitochondrial ATP synthase in brain tissue from neuronal ceroid lipofuscinoses and mucopolysaccharidosis cases but not in long-term fibroblast cultures.
Recent data showed storage of subunit c of mitochondrial ATP synthase in late infantile, juvenile, and adult forms of neuronal ceroid lipofuscinosis (NCL). The present study demonstrates that the expression of subunit c in NCL fibroblasts in long-term cultures, both grown in standard conditions and after leupeptin and ammonium chloride treatment, is not greater than in controls. It indicates that as a result of yet undefined factors, NCL fibroblasts in long-term cultures, lose their ability to accumulate subunit c. Moreover, both Western blot analysis of brain tissue homogenates and immunohistochemistry showed increased immunoreactivity to subunit c in mucopolysaccharidosis type I and III. This increased subunit c expression in a disorder with impaired lysosomal function other than the NCL supports the hypothesis that accumulation of this proteolipid might be related to its defective degradation.
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New York State Office of Mental Retardation and Developmental Disabilities, Department of Pathological Neurobiology, Staten Island, NY 10314.
Wisniewski
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Golabek
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D015153:Blotting, Western; D001921:Brain / Q000166:cytology / Q000201:enzymology*; D002478:Cells, Cultured; D004591:Electrophoresis, Polyacrylamide Gel; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007150:Immunohistochemistry; D008928:Mitochondria / Q000201:enzymology*; D009083:Mucopolysaccharidoses / Q000201:enzymology*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000201:enzymology*; D006180:Proton-Translocating ATPases / Q000096:biosynthesis*
D006180:Proton-Translocating ATPases