- Mitochondria


Luft R, Ikkos D, Palmieri G, et al. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical and morphological study. J Clin Invest 1962;41:1776–804. Shy GM, Gonatas NK, Perez M. Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleioconial myopathy. Brain 1966;89:133–58. Rowland LP, Hays AP, Di Mauro S, et al. Diverse clinical disorders associated with abnormalities of mitochondria. In: Scarlato G, Cerri C, eds. Mitochondrial pathology in muscle diseases. Padova: Piccin, 1983:141–58. Petty RK, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986;109:915–38. Nass S, Nass MMK. Intramitochondrial fibres with DNA characteristics. J Cell Biol 1963;19:593–629. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457–65. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science 1988;242:1427–30. Holt I, Harding AE, Morgan-Hughes JA. Deletion of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717–19. Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul Disord 2003;13:109–14. Schon EA, Bonilla E, DiMauro S. Mitochondrial DNA mutations and pathogenesis. J Bioenerget Biomemb 1997;29:131–49. Wallace DC. Mitochondrial diseases in mouse and man. Science 1999;283:1482–8. DiMauro S. Mitochondrial encephalomyopathies: back to Mendelian genetics. Ann Neurol 1999;45:693–4. Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Hum Mol Genet 2001;10:2277–84. Alexander C, Votruba M, Pesch UE, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000;26:211–15. Rotig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997;17:215–17. Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998;93:973–83. Lutsenko S, Cooper MJ. Localization of the Wilson’s disease protein product to mitochondria. Proc Natl Acad Sci USA 1998;95:6004–9. Leonard JV, Schapira AVH. Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet 2000;355:389–94. Van Goethem G, Dermaut B, Lofgren A, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211–12. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689–92. Saada A, Shaag A, Mandel H, et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342–4. Mandel H, Szargel R, Labay V, et al. The deoyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337–41. Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000;289:782–5. Spelbrink JN, Li FY, Tiranti V, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localised in mitochondria. Nat Genet 2001;28:223–31. Larsson NG, Wang J, Wilhelmsson H, et al. Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat Genet 1998;18:231–6. Falkenberg M, Gaspari M, Rantanen A, et al. Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. Nat Genet 2002;31:289–94. Chinnery PF, Howell N, Andrews RA, et al. Clinical mitochondrial genetics. J Med Genet 1999;36:425–36. Leonard JV, Schapira AH. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 2000;355:299–304. DiMauro S, Schon EA. Mitochondrial DNA mutations in human disease. Am J Med Genet 2001;106:18–26. Holt IJ, Harding AE, Petty RK, et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428–33. Tiranti V, Hoertnagel K, Carrozzo R, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998;63:1609–21. Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31:391–8. Moraes CT, Ciacci F, Silvestri G, et al. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord 1993;3:43–50. Reardon W, Ross RJ, Sweeney MG, et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992;340:1376–9. Nikoskelainen EK. Clinical picture of LHON. Clin Neurosci 1994;2:115–20. Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutations associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993;4:289–94. King MP, Attardi G. Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA. Cell 1988;52:811–19. Chinnery PF, Howell N, Lightowlers RN, et al. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997;120:1713–21. White SL, Collins VA, Woolfe R, et al. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am J Hum Genet 1999;65:474–82. Giles RE, Blanc H, Cann HM, et al. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 1980;77:6715–19. Sutovsky P, Moreno RD, Ramalho-Santos J, et al. Ubiquitin tag for sperm mitochondria. Nature 1999;403:371–2. Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 2002;347:576–80. Poulton J, Macaulay V, Marchington DR. Mitochondrial genetics ’98: Is the bottleneck cracked? Am J Hum Genet 1998;62:752–7. Jenuth J, Peterson AC, Fu K, et al. Random genetic drift in the female germ line explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 1996;14:146–51. Meirelles F, Smith LC. Mitochondrial genotype segregation in a mouse heteroplasmic lineage produced by embryonic karyoplast transplantation. Genetics 1997;145:445–51. Seibel P, Trappe J, Villani G, et al. Transfection of mitochondria: strategy towards a gene therapy of mitochondrial DNA diseases. Nucleic Acids Res 1995;23:10–17. Larsson NG, Rustin P. Animal models for respiratory chain disease. Trends Mol Med 2001;7:578–81. Graham BH, Waymire KG, Cottrell B, et al. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat Genet 1997;16:226–34. Li Y, Huang TT, Carlson EJ, et al. Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase. Nat Genet 1995;11:376–81. Wang J, Wilhelmsson H, Graff C, et al. Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA expression. Nat Genet 1999;21:133–7. Silva JP, Kohler M, Graff C, et al. Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes. Nat Genet 2000;26:336–40. Agostino A, Invernizzi F, Tiveron C, et al. Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet 2003;12:399–413. Haraguchi M, Tsujimoto H, Fukushima M, et al. Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice. Mol Cell Biol 2002;22:5212–21. Sligh JE, Levy SE, Waymire KG, et al. Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice. Proc Natl Acad Sci USA 2000;97:14461–6. Johnson KR, Zheng QY, Bykhovskaya Y, et al. A nuclear–mitochondrial DNA interaction affecting hearing impairment in mice. Nat Genet 2001;27:191–4. Chinnery PF, Thorburn DR, Samuels DC, et al. The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends Genet 2000;16:500–5. Brown DT, Samuels DC, Michael EM, et al. Random genetic drift determines the level of mutant mitochondrial DNA in human primary oocytes. Am J Hum Genet 2001;68:553–36. Chinnery PF, Howell N, Lightowlers RN, et al. MELAS and MERRF: the relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998;121:1889–94. Bogenhagen D, Clayton DA. Mouse L cell mitochondrial DNA molecules are selected randomly for replication throughout the cell cycle. Cell 1977;11:719–27. Birky CW. The inheritance of genes in mitochondria and chloroplasts: laws, mechanisms, and models. Annu Rev Genet 2001;35:125–48. Chinnery PF, Samuels DC. Relaxed replication of mtDNA: a model with implications for the expression of disease. Am J Hum Genet 1999;64:1158–65. Birky CW. Relaxed and stringent genomes: why cytoplasmic genes don’t obey Mendel’s laws. J Heredity 1994;85:355–65. ’t Hart LM, Jansen JJ, Lemkes HHPJ, et al. Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. Hum Mutat 1996;7:193–7. Chinnery PF, Johnson MA, Wardell TM, et al. Epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000;48:188–93. Howell N. Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve. Vision Res 1997;37:3495–507. Saadati HG, Hsu HY, Heller KB, et al. A histopathologic and morphometric differentiation of nerves in optic nerve hypoplasia and Leber hereditary optic neuropathy. Arch Ophthalmol 1998;116:911–16. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber’s hereditary optic neuropathy with the 11 778 mutation. Am J Ophthalmol 1991;111:750–62. Riordan-Eva P, Sanders MD, Govan GG, et al. The clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995;118:319–37. Man PY, Griffiths PG, Brown DT, et al. The epidemiology of Leber hereditary optic neuropathy in the north East of England. Am J Hum Genet 2003;72:333–9. Torroni A, Huoponen K, Francalacci P, et al. Classification of European mtDNAs from an analysis of three European populations. Genetics 1996;144:1835–50. Torroni A, Petrozzi M, D’Urbano L, et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 1997;60:1107–21. Howell N, Kubacka I, Halvorson S, et al. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 1995;140:285–302. Bu X, Rotter JI. X chromosomal-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X-chromosome inactivation. Proc Natl Acad Sci USA 1991;88:8198–202. Chalmers RM, Davis MB, Sweeney MG, et al. Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy. Am J Hum Genet 1996;59:103–8. Kerrison JB, Miller NR, Hsu F, et al. A case–control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. Am J Ophthalmol 2000;130:803–12. Tsao K, Aitken PA, Johns DR. Smoking as an aetiological factor in a pedigree with Leber’s hereditary optic neuropathy. Br J Ophthalmol 1999;83:577–81. Jenuth JP, Peterson AC, Shoubridge EA. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat Genet 1997;16:93–5. Battersby BJ, Shoubridge E. Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to difference in respiratory chain function or efficiency of replication. Hum Mol Genet 2001;10:2469–79. Battersby BJ, Loredo-Osti JC, Shoubridge EA. Nuclear genetic control of mitochondrial DNA segregation. Nat Genet 2003;33:183–6. Blier PU, Dufresne F, Burton RS. Natural selection and the evolution of mtDNA-encoded peptides: evidence for intergenomic co-adaptation. Trends Genet 2001;17:400–6. Mishmar D, Ruiz-Pesini E, Golik P, et al. Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A 2003;100:171–6. Mackey DA, Oostra R-J, Rosenberg T, et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 1996;59:481–5. Chinnery PF, Reading PJ, Walls TJ, et al. Recurrent strokes in a 34 year old man. Lancet 1997;350:560. Dubeau F, De Stefano N, Zifkin BG, et al. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree. Ann Neurol 2000;47:179–85. Engel WK, Cunningham CG. Rapid examination of muscle tissue: an improved trichrome stain for fresh-frozen biopsy sections. Neurology 1963;13:919–23. Old SL, Johnson MA. Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle. Histochem J 1989;21:545–55. Hayashi J, Ohta S, Kikuchi A, et al. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 1991;88:10614–18. Johnson MA, Bindoff LA, Turnbull DM. Cytochrome c oxidase activity in single muscle fibres: assay techniques and diagnostic applications. Ann Neurol 1993;33:28–35. Sasarman F, Karpati G, Shoubridge EA. Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy. Hum Mol Genet 2002;11:1669–81. Taivassalo T, Abbott A, Wyrick P, et al. Venous oxygen levels during aerobic forearm exercise: an index of impaired oxidative metabolism in mitochondrial myopathy. Ann Neurol 2002;51:38–44. Argov Z, Bank W. Phosphorus magnetic resonance spectroscopy (31-P MRS) in Neuromuscular disorders. Ann Neurol 1991;30:90–7. van Beekvelt MC, van Engelen BG, Wevers RA, et al. Quantitative near-infrared spectroscopy discriminates between mitochondrial myopathies and normal muscle. Ann Neurol 1999;46:667–70. Moraes CT, Schon EA. Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR. Methods Enzymol 1996;264:522–40. Thorburn DR, Dahl HHM. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 2001;106:102–14. Poulton J, Turnbull DM. 74th ENMC International workshop: mitochondrial diseases. Neuromuscul Disord 2000;10:460–2. Chinnery PF, Turnbull DM. The epidemiology and treatment of mitochondrial disease. Am J Med Genet 2001;106:94–101. Fu K, Hartien R, Johns T, et al. A novel heteroplasmic tRNAleu(UUR) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in muscle and suggests an approach to therapy. Hum Mol Genet 1996;5:1835–40. Clark K, Bindoff LA, Lightowlers RN, et al. Correction of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 1997;16:222–4. Taivassalo T, Fu K, Johns T, et al. Gene shifting: a novel therapy for mitochondrial myopathy. Hum Mol Genet 1999;8:1047–52. Taivassalo T, Matthews PM, De Stefano N, et al. Combined aerobic training and dichloracetate improve exercise capacity and indices on aerobic metabolism in muscle cytochrome oxidase deficiency. Neurology 1996;47:529–34. Taivassalo T, Shoubridge EA, Chen J, et al. Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. Ann Neurol 2001;50:133–41. Taylor RW, Chinnery PF, Turnbull DM, et al. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nat Genet 1997;15:212–15. Chinnery PF, Taylor RW, Diekert K, et al. Peptide nucleic acid delivery into human mitochondria. Gene Ther 1999;6:1919–28. Manfredi G, Gupta N, Vazquez-Memije ME, et al. Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase6 gene. J Biol Chem 1999;274:9386–91. Inoue K, Nakada K, Ogura A, et al. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes [In Process citation]. Nat Genet 2000;26:176–81.

rating: 4.33 from 40 votes | updated on: 5 Jul 2006 | views: 55422 |

Rate article:

excellent! bad…