Current concepts of mitochondrial disorders in childhood

Chinnery, 2000, The epidemiology of pathogenic mitochondrial DNA mutations, Ann Neurol, 48, 188, 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P Morriston, 1995, The epidemiology of Huntington's disease in Northern Ireland, J Med Genet, 32, 524, 10.1136/jmg.32.7.524 Emery, 1991, Population frequencies of inherited neuromuscular disorders—a world survey, Neuromuscul Disord, 1, 19, 10.1016/0960-8966(91)90039-U Darin, 2001, The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities, Ann Neurol, 49, 377, 10.1002/ana.75 Munnich, 2001, Clinical spectrum and diagnosis of mitochondrial disorders, An J Med Genet (Semin Med Genet), 106, 4, 10.1002/ajmg.1391 Anderson, 1981, Sequence and organization of human mitochondrial genome, Nature, 290, 457, 10.1038/290457a0 Jenuth, 1996, Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA, Nat Genet, 14, 146, 10.1038/ng1096-146 Grossman, 1996, Mitochondrial genetics and human disease, Bioessays, 18, 983, 10.1002/bies.950181208 Holt, 1988, Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies, Nature, 331, 717, 10.1038/331717a0 Servidei, 2002, Mitochondrial encephalomyopathies: gene mutation, Neuromuscul Disord, 12, 334, 10.1016/S0960-8966(01)00334-0 DiMauro, 1999, Does the patient have a mitochondrial encephalomyopathy?, J Child Neurol, 14, S23, 10.1177/0883073899014001051 Shoubridge, 1994, Mitochondrial DNA diseases: Histological and cellular studies, J Bioenerg Biomembr, 26, 301, 10.1007/BF00763101 Smeitink, 2001, The genetics and pathology of oxidative phosphorylation, Nat Rev Genet, 2, 342, 10.1038/35072063 Bourgeron, 1995, Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency, Nat Genet, 11, 144, 10.1038/ng1095-144 van den Heuvel, 1998, Demonstration of a new pathogenic mutation in human complex I deficiency: A 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit, Am J Hum Genet, 62, 262, 10.1086/301716 Loeffen, 2000, Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects, Hum Mutat, 15, 123, 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P Loeffen, 2001, Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalopathy, Ann Neurol, 49, 195, 10.1002/1531-8249(20010201)49:2<195::AID-ANA39>3.0.CO;2-M Bénit, 2001, Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency, Am J Hum Genet, 68, 1344, 10.1086/320603 Zhu, 1998, SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leight syndrome, Nat Genet, 20, 337, 10.1038/3804 Tiranti, 1998, Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency, Am J Hum Genet, 63, 1609, 10.1086/302150 Papadopoulou, 2001, Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene, Nat Genet, 23, 333, 10.1038/15513 Valnot, 2000, Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal onset hepatic failure and encephalopathy, Am J Hum Genet, 67, 1104 Valnot, 2000, A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency, Hum Mol Genet, 9, 1245, 10.1093/hmg/9.8.1245 de Lonlay, 2001, Mutations in BCSIL, a mitochondrial respiratory chain assembly gene, are responsible for the complex III deficiency of patients with tubulopathy, encephalopathy and liver failure, Nat Genet, 29, 57, 10.1038/ng706 Koehler, 1999, Human deafness dystonia syndrome is a mitochondrial disease, Proc Natl Acad Sci USA, 96, 2141, 10.1073/pnas.96.5.2141 Agsteribbe, 1993, A fatal multisystemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria, and deficiency of heat shock protein 60, Biochem Biophys Res Commun, 193, 146, 10.1006/bbrc.1993.1602 Kaukonen, 2000, Role of adenine nucleotide translocator 1 in mtDNA maintenance, Science, 289, 782, 10.1126/science.289.5480.782 van Goethem, 2001, Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions, Nat Genet, 28, 211, 10.1038/90034 Spelbrink, 2001, Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria, Nat Genet, 28, 223, 10.1038/90058 Nishino, 1999, Thymidine phosphorylase gene mutation in MNGIE, a human mitochondrial disorder, Science, 283, 689, 10.1126/science.283.5402.689 Saada, 2001, Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy, Nat Genet, 29, 342, 10.1038/ng751 Mandel, 2001, The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA, Nat Genet, 29, 337, 10.1038/ng746 Patel, 2001, Friedreich ataxia: From GAA triplet repeat expansion to frataxin deficiency, Am J Hum Genet, 69, 15, 10.1086/321283 Casari, 1998, Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease, Cell, 93, 973, 10.1016/S0092-8674(00)81203-9 Bione, 1996, A novel X-linked gene, G4.5, is responsible for Barth syndrome, Nat Genet, 12, 385, 10.1038/ng0496-385 Barth, 1983, An X-linked mitochondrial disease affecting cardiac muscle and neutrophil leucocytes, J Neurol Sci, 62, 327, 10.1016/0022-510X(83)90209-5 Wolf, 2001, Diagnosis of respiratory chain disorders—the NCMD criteria, Mitochondrion, 1, A13 Rahman, 1996, Leigh syndrome: Clinical features and biochemical and DNA abnormalities, Ann Neurol, 39, 343, 10.1002/ana.410390311 Gauthier-Villars, 2001, Respiratory chain deficiency in Alpers sydrome, Neuropediatrics, 32, 150, 10.1055/s-2001-16614 DiMauro, 1983, Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency, Ann Neurol, 14, 226, 10.1002/ana.410140209 Bresolin, 1985, Fatal infantile cytochrome c oxidase deficiency: Decrease of immunologically detectable enzyme in muscle, Neurology, 35, 802, 10.1212/WNL.35.6.802 Sue, 1999, Infantile encephalopathy associated with the MELAS A3242G mutation, J Pediatr, 134, 696, 10.1016/S0022-3476(99)70283-0 Rubio-Gozalbo, 2000, Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations, Hum Mutat, 15, 522, 10.1002/1098-1004(200006)15:6<522::AID-HUMU4>3.0.CO;2-Y Thorburn, 2001, Diagnosis of mitochondrial disorders: Clinical and biochemical approach, J Inherit Metab Dis, 24, 312, 10.1023/A:1010347808082 De Lonlay-Debeney, 2000, Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency, J Pediatr, 136, 209, 10.1016/S0022-3476(00)70103-X Krägeloh-Mann, 1993, Proton spectroscopy in five patients with Leigh disease and mitochondrial enzyme deficiency, Dev Med Child Neurol, 35, 769, 10.1111/j.1469-8749.1993.tb11728.x Hobbiebrunken, 1997, Das Göttinger Kinderfahrradergometer—Kraft und Ausdauer Messung bei gesunden und muskelkranken Kindern, Med Genetik, 9, 461 Amiel, 2001, Prenatal diagnosis of respiratory chain deficiency by direct mutation screening, Prenat Diagn, 21, 602, 10.1002/pd.126 Niers, 2001, Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency, Prenat Diagn, 21, 871, 10.1002/pd.162 Lou, 1981, Correction of increased plasma pyruvate and plasma lactate using large doses of thiamine in a patient with Kearns-Sayre syndrome, Arch Neurol, 38, 598, 10.1001/archneur.1981.00510070103027 Bernsen, 1993, Treatment of complex I deficiency with riboflavin, J Neurol Sci, 118, 181, 10.1016/0022-510X(93)90108-B Eleff, 1984, 31P-NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect of electron transport in complex III in skeletal muscle, Proc Natl Acad Sci USA, 81, 3529, 10.1073/pnas.81.11.3529 Abe, 1991, Marked reduction in CSF lactate and pyruvate levels in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, Acta Neurol Scand, 83, 356, 10.1111/j.1600-0404.1991.tb03962.x DeStefano, 1995, Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders, Neurology, 45, 1193, 10.1212/WNL.45.6.1193 Cortelli, 1997, Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: A clinical and 31P-MRS study, J Neurol Sci, 148, 25, 10.1016/S0022-510X(96)00311-5 Rustin, 1999, Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study, Lancet, 354, 477, 10.1016/S0140-6736(99)01341-0 DiMauro, 2000, Mitochondrial encephalomyopathies: Therapeutic approaches, Neurol Sci, 21, S901, 10.1007/s100720070001 Borchert, 1999, Supplementation with creatine monohydrate in children with mitochondrial encephalomyopathies, Muscle Nerve, 22, 1299, 10.1002/(SICI)1097-4598(199909)22:9<1299::AID-MUS24>3.0.CO;2-4 Wispe, 1992, Human superoxide dismutase in pulmonary epithelial cells of transgenic mice confers protection from oxygen injury, J Biol Chem, 267, 23937, 10.1016/S0021-9258(18)35927-1 Fu, 1996, A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy, Hum Mol Genet, 5, 1835, 10.1093/hmg/5.11.1835 Taivassalo, 1999, Gene shifting: A novel therapy for mitochondrial myopathy, Hum Mol Genet, 8, 1047, 10.1093/hmg/8.6.1047 Kolesnikova, 2000, Suppression of mutations in mitochondrial DNA by tRNAs imported from cytoplasm, Science, 289, 1931, 10.1126/science.289.5486.1931 Taylor, 1997, Selective inhibition of mutated human mitochondrial DNA replication in vitro by peptide nucleic acids, Nat Genet, 15, 212, 10.1038/ng0297-212 Chinnery, 1999, Peptide nucleic acid delivery into human mitochondria, Gene Ther, 6, 1919, 10.1038/sj.gt.3301061