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The rate of degradation of subunit c as measured by pulse\u2013chase and immunoprecipitation showed a marked delay of degradation in patients' fibroblasts with late infantile form of NCL. There were no significant differences between control cells and cells with disease in the degradation of cytochrome oxidase subunit IV, an inner membrane protein of mitochondria. Measurement of labeled subunit c in mitochondrial and lysosomal fractions showed that the accumulation of labeled subunit c in the mitochondrial fraction can be detected before lysosomal appearance of radioactive subunit c, suggesting that subunit c accumulated as a consequence of abnormal catabolism in the mitochondrion and is transferred to lysosomes through an autophagic process. The biosynthetic rate of subunit c and mRNA levels for P1 and P2 genes that code for it were almost the same in both control and patient cells. These findings suggest that a specific failure in the degradation of subunit c after its normal inclusion in mitochondria and its consequent accumulation in lysosomes. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570229","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:01:48Z","timestamp":1118512908000},"page":"254-259","source":"Crossref","is-referenced-by-count":37,"title":["Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid\u2010lipofuscinosis (Batten disease)"],"prefix":"10.1002","volume":"57","author":[{"given":"Junji","family":"Ezaki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonhard S.","family":"Wolfe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumi","family":"Ishidoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiki","family":"Kominami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.6.1869"},{"key":"e_1_2_1_3_1","first-page":"13","article-title":"Lysosomal degradation of microinjected proteins","volume":"20","author":"Dice JF","year":"1989","journal-title":"Cell Biol Rev"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2930051"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2600249"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710269"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","unstructured":"EzakiJ WolfeLS HigutiT IshidohK KominamiE(1995): Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease).J Neurochem in press.","DOI":"10.1002\/ajmg.1320570229"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2680751"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2750269"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"3575","DOI":"10.1016\/S0021-9258(18)34818-X","article-title":"Turnover of mitochondrial inner membrance proteins in hepatoma monolayer cultures","volume":"257","author":"Hare JF","year":"1982","journal-title":"J Biol Chem"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.61.070192.003553"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4781(93)90249-D"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90235-7"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)36968-5"},{"key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"6093","DOI":"10.1016\/S0021-9258(18)32377-9","article-title":"Sequestration of cytoplasmic enzymes in an autophagic vacuolelysosomal system induced by injection of leupeptin","volume":"258","author":"Kominami E","year":"1983","journal-title":"J Biol Chem"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a123749"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2930065"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1210"},{"key":"e_1_2_1_19_1","doi-asserted-by":"crossref","first-page":"5736","DOI":"10.1016\/S0021-9258(18)83610-9","article-title":"Ovine ceroid lipofuscinosis: The major lipopigment protein and the lipid binding subunit of mitochondrial ATP synthase have the same NH2\u2010terminal sequence","volume":"264","author":"Palmer DN","year":"1989","journal-title":"J Biol Chem"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420428"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1982.tb06866.x"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.78.1.152"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2160163"},{"key":"e_1_2_1_24_1","unstructured":"SavukoskiM Kestil\u00e4M WilliamsR J\u00e4rvel\u00e4I SharpJ SantavuoriP GardinerM PeltonenL(1994):The chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. 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