Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients

Journal of Molecular Biology - Tập 361 - Trang 462-469 - 2006
Matthew McKenzie1, Michael Lazarou1, David R. Thorburn2,3, Michael T. Ryan1
1Department of Biochemistry, La Trobe University, Melbourne, Australia
2Murdoch Childrens Research Institute and Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia
3Department of Paediatrics, University of Melbourne, Melbourne, Australia

Tài liệu tham khảo

Barth, 2004, X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update, Am. J. Med. Genet. A, 126, 349, 10.1002/ajmg.a.20660 Barth, 1983, An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes, J. Neurol. Sci., 62, 327, 10.1016/0022-510X(83)90209-5 Bione, 1996, A novel X-linked gene, G4.5. is responsible for Barth syndrome, Nature Genet., 12, 385, 10.1038/ng0496-385 D'Adamo, 1997, The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies, Am. J. Hum. Genet., 61, 862, 10.1086/514886 Neuwald, 1997, Barth syndrome may be due to an acyltransferase deficiency, Curr. Biol., 7, R465, 10.1016/S0960-9822(06)00237-5 Valianpour, 2002, Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients, Clin. Chem., 48, 1390, 10.1093/clinchem/48.9.1390 Valianpour, 2002, Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts, J. Pediatr., 141, 729, 10.1067/mpd.2002.129174 Neustein, 1979, An X-linked recessive cardiomyopathy with abnormal mitochondria, Pediatrics, 64, 24, 10.1542/peds.64.1.24 Barth, 1996, X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts, J. Inherit. Metab. Dis., 19, 157, 10.1007/BF01799418 Xu, 2005, Characterization of lymphoblast mitochondria from patients with Barth syndrome, Lab. Invest., 85, 823, 10.1038/labinvest.3700274 Zhang, 2005, Cardiolipin is essential for organization of complexes III and IV into a supercomplex in intact yeast mitochondria, J. Biol. Chem., 280, 29403, 10.1074/jbc.M504955200 Zhang, 2002, Gluing the respiratory chain together. Cardiolipin is required for supercomplex formation in the inner mitochondrial membrane, J. Biol. Chem., 277, 43553, 10.1074/jbc.C200551200 Pfeiffer, 2003, Cardiolipin stabilizes respiratory chain supercomplexes, J. Biol. Chem., 278, 52873, 10.1074/jbc.M308366200 Schlame, 2000, The biosynthesis and functional role of cardiolipin, Prog. Lipid Res., 39, 257, 10.1016/S0163-7827(00)00005-9 Genova, 2003, Structural organization of the mitochondrial respiratory chain, Ital. J. Biochem., 52, 58 Schagger, 2004, Significance of respirasomes for the assembly/stability of human respiratory chain complex I, J. Biol. Chem., 279, 36349, 10.1074/jbc.M404033200 Acin-Perez, 2004, Respiratory complex III is required to maintain complex I in mammalian mitochondria, Mol. Cell., 13, 805, 10.1016/S1097-2765(04)00124-8 Brandner, 2005, Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth syndrome, Mol. Biol. Cell., 16, 5202, 10.1091/mbc.E05-03-0256 Schagger, 2000, Supercomplexes in the respiratory chains of yeast and mammalian mitochondria, EMBO J., 19, 1777, 10.1093/emboj/19.8.1777 Schagger, 2001, Respiratory chain supercomplexes, IUBMB Life, 52, 119, 10.1080/15216540152845911 Gohil, 2004, Cardiolipin biosynthesis and mitochondrial respiratory chain function are interdependent, J. Biol. Chem., 279, 42612, 10.1074/jbc.M402545200 Ma, 2004, The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome, J. Biol. Chem., 279, 44394, 10.1074/jbc.M405479200 Gomez, 1999, Phospholipase digestion of bound cardiolipin reversibly inactivates bovine cytochrome bc1, Biochemistry, 38, 9031, 10.1021/bi990603r Sedlak, 1999, Phospholipase A(2) digestion of cardiolipin bound to bovine cytochrome c oxidase alters both activity and quaternary structure, Biochemistry, 38, 14966, 10.1021/bi9914053 Lange, 2001, Specific roles of protein-phospholipid interactions in the yeast cytochrome bc1 complex structure, EMBO J., 20, 6591, 10.1093/emboj/20.23.6591 Sedlak, 2006, Photolabeling of cardiolipin binding subunits within bovine heart cytochrome c oxidase, Biochemistry, 45, 746, 10.1021/bi050870z Vaz, 2003, Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism, J. Biol. Chem., 278, 43089, 10.1074/jbc.M305956200 Valianpour, 2005, Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis, J. Lipid Res., 46, 1182, 10.1194/jlr.M500056-JLR200 Kagan, 2005, Cytochrome c acts as a cardiolipin oxygenase required for release of proapoptotic factors, Nature Chem. Biol., 1, 223, 10.1038/nchembio727 Sharpley, 2006, Interactions between phospholipids and NADH:ubiquinone oxidoreductase (complex I) from bovine mitochondria, Biochemistry, 45, 241, 10.1021/bi051809x Fry, 1981, Cardiolipin requirement for electron transfer in complex I and III of the mitochondrial respiratory chain, J. Biol. Chem., 256, 1874, 10.1016/S0021-9258(19)69888-1 Schlame, 2003, Phospholipid abnormalities in children with Barth syndrome, J. Am. Coll. Cardiol., 42, 1994, 10.1016/j.jacc.2003.06.015 Schagger, 1987, Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa, Anal. Biochem., 166, 368, 10.1016/0003-2697(87)90587-2 Schagger, 1991, Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form, Anal. Biochem., 199, 223, 10.1016/0003-2697(91)90094-A Johnston, 2002, Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane, J. Biol. Chem., 277, 42197, 10.1074/jbc.M205613200 van Werkhoven, M. A., Thorburn, D. R., Gedeon, A. K., & Pitt, J. J. (submitted for publication). Monolysocardiolipin in cultured fibrolasts is a sensitive and specific marker for Barth Syndrome.