Specific Delay of Degradation of Mitochondrial ATP Synthase Subunit c in Late Infantile Neuronal Ceroid Lipofuscinosis (Batten Disease)

摘要: : Subunit c is normally present as an inner mitochondrial membrane component of the F0 section ATP synthase complex, but in late infantile form neuronal ceroid lipofuscinosis (NCL) it was also found lysosomes high concentrations. To explore mechanism storage subunit c, rates degradation and synthesis were measured fibroblast cell types from controls patients with NCL. The radiolabel decreased time control cells, whereas no apparent loss radioactivity patients' cells. There significant differences between cells disease cytochrome oxidase IV, protein mitochondria. A combination pulse-chase subcellular fractionation analysis showed that a delay intramitochondrial prelabeled seen all diseased tested. Lysosomal appearance labeled could be detected after chase for more than 1 week its radioactivities variable among types. biosynthetic rate almost same both patient Northern blotting analyses mRNAs P1 P2 genes had difference lengths amounts Results suggest specific failure normal inclusion mitochondria consequent accumulation lysosomes. This first direct evidence to show