• 1
    Saraste M. Oxidative phosphorylation at the fin de siecle. Science 1999; 283: 148893.
  • 2
    Gray M W, Burger G, Lang B F. Mitochondrial evolution. Science 1999; 283: 147681.
  • 3
    Larsson N-G, Clayton D A. Molecular genetic aspects of human mitochondrial disorders. Annu Rev Genet 1995; 29: 15778.
  • 4
    Chomyn A. The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics. Am J Hum Genet 1998; 62: 74551.
  • 5
    Watmough N J, Bindoff L A, Birch-Machin M A, et al. Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria. J Clin Invest 1990; 85: 17784.
  • 6
    Radda G K, Bore P J, Gadian D G, et al. 31P NMR examination of two patients with NADH-CoQ reductase deficiency. Nature 1982; 295: 6089.
  • 7
    Melov S, Schneider J A, Day B J, et al. A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase. Nat Genet 1998; 18: 15963.
  • 8
    Sokol R J, Twedt D, McKim J M, et al. Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis. Gastroenterology 1994; 107: 178898.
  • 9
    Mansouri A, Gaou I, Fromenty B, et al. Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease. Gastroenterology 1997; 113: 599605.
  • 10
    Fromenty B, Grimbert S, Mansouri A, et al. Hepatic mitochondrial DNA deletion in alcoholics: association with microvesicular steatosis. Gastroenterology 1995; 108: 193200.
  • 11
    McKenzie R, Fried M W, Sallie R, et al. Hepatic failure and lactic acidosis due to fialuridine (FIAU), an investigational nucleoside analogue for chronic hepatitis B. N Engl J Med 1995; 333: 1099105.
  • 12
    Treem W R, Sokol R J. Disorders of the mitochondria. Semin Liver Dis 1998; 38: 23754.
  • 13
    Fayon M, Lamireau T, Bioulac-Sage P, et al. Fatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites. Gastroenterology 1992; 103: 13325.
  • 14
    Cormier-Daire V, Chretien D, Rustin P, et al. Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. J Pediatr 1997; 130: 81722.
  • 15
    Goncalves I, Hermans D, Chretien D, et al. Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency. J Hepatol 1995; 23: 2904.
  • 16
    Cormier V, Rustin P, Bonnefont J-P, et al. Hepatic failure in disorders of oxidative phosphorylation of neonatal onset. J Pediatr 1991; 119: 9514.
  • 17
    Parrot-Roulaud F, Carre M, Lamirau T, et al. Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain. J Inherit Metab Dis 1991; 14: 28992.
  • 18
    Morris A A, Taylor R W, Birch-Machin M A, et al. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol 1995; 9: 40711.
  • 19
    Rötig A, Bourgeron T, Chretien D, et al. Spectrum of mitochondrial DNA deletions in the Pearson marrow-pancreas syndrome. Hum Mol Genet 1995; 4: 132730.
  • 20
    Morris A A, Taanman J W, Blake J, et al. Liver failure associated with mitochondrial DNA depletion. J Hepatol 1998; 28: 55663.
  • 21
    Freckmann M-L, Thorburn D R, Kirby D M, et al. Mitochondrial electron transport chain defect presenting as hypoglycaemia, J Pediatr 1997; 130: 4316.
  • 22
    Naviaux R K, Nyhan W L, Barshop B A, et al. Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers syndrome. Ann Neurol 1999; 45: 548.
  • 23
    Maaswinkel-Mooij P D, Van den Bogert C, Scholte H R, et al. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr 1996; 128: 67983.
  • 24
    Cormier-Daire V, Bonnefont J-P, Rustin P, et al. Mitochondrial rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 1994; 124: 6370.
  • 25
    Rötig A, Cormier Y, Blanche S, et al. Pearson's marrow-pancreas syndrome, a multisystem mitochondrial disorder in infancy. J Clin Invest 1990; 86: 16018.
  • 26
    Harding B H. Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher Syndrome): a personal review. J Child Neurol 1990; 5: 27387.
  • 27
    Bicknese A R, May W, Hickey W F, Dodson W E. Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatoxicity. Ann Neurol 1992; 32: 76775.
  • 28
    Ponchaut S, Van Hoof F, Veitch K. Cytochrome aa3 depletion is the cause of the deficient mitochondrial respiration induced by chronic valproate administration. Biochem Pharmacol 1992; 43: 6447.
  • 29
    Bioulac-Sage P, Parrot-Roulaud F, Mazat J P, et al. Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. Hepatology 1993; 18: 83946.
  • 30
    Boustany R N, Aprille J R, Halperin J, et al. Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. Ann Neurol 1983; 14: 46270.
  • 31
    Bakker H D, Scholte H R, Dingemans K P, et al. Depletion of mitochondrial DNA in a family with fatal neonatal liver disease. J Pediatr 1996; 128: 6837.
  • 32
    Pearson H, Lobel J, Kocoshis S, et al. A new syndrome of refractory sideroblastic anaemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979; 95: 976984.
  • 33
    Dimmick J E, Jevon G P. Liver disease in the perinatal infant. In: WiggleworthJ S, SingerD B eds. Textbook of fetal and perinatal pathology. Oxford : Blackwell, 1998: 86599.
  • 34
    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: 97383.
  • 35
    Larsson N G, Holme E, Kristiansson B, et al. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 1990; 28: 1316.
  • 36
    McShane M A, Hammans S R, Sweeney M, et al. Pearson Syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet 1991; 48: 3942.
  • 37
    Rötig A, Bessis J-L, Romero N, et al. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia. Am J Hum Genet 1992; 50: 36470.
  • 38
    Rötig A, Cormier V, Chatelain P. Deletion of mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 2223000). J Clin Invest 1993; 91: 10958.
  • 39
    Morris A A, Lamont P J, Clayton P T. Pearson's syndrome without marrow involvement. Arch Dis Child 1997; 77: 567.
  • 40
    Moraes C T, Shanske S, Trischler H-J, et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991; 48: 492501.
  • 41
    Tritschler H J, Andreetta F, Moraes C T, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 1992; 42: 20917.
  • 42
    Taanman J W, Bodnar A G, Cooper J M, et al. Molecular mechanisms in mitochondrial DNA depletion syndrome. Hum Mol Genet 1997; 6: 93542.
  • 43
    Mazziotta M R, Ricci E, Bertini E, et al. Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 1992; 121: 896901.
  • 44
    Bakker H D, Van den Bogert C, Scholte H R, et al. Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family. J Inherit Metab Dis 1996; 19: 1124.
  • 45
    Larsson N G, Oldfors A, Holme E, Clayton D A. Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. Biochem Biophys Res Commun 1994; 200: 137481.
  • 46
    Bodnar A G, Cooper J M, Holt I J, et al. Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am J Hum Genet 1993; 53: 6639.
  • 47
    von Kleist-Retzow J-C, Cormier-Daire V, de Lonlay P, et al. A high rate (20–30%) of parental consanguinity in cytochrome oxidase activity. Am J Hum Genet 1998; 63: 42835.
  • 48
    van der Heuvel L, Ruitenbeek W, Smeets R, et al. 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 1998; 62: 2628.
  • 49
    Bourgeron T, Rustin P, Chretien D, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet. 1995; 11: 1449.
  • 50
    Zhu Z, Yao J, Johns T, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome oxidase, is mutated in Leigh syndrome. Nat Genet 1998; 20: 33743.
  • 51
    Morin C, Mitchell G, Larochelle J, et al. Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean. Am J Hum Genet 1993; 53: 48896.
  • 52
    Merante F, Petrova-Benedict R, MacKay N, et al. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Am J Hum Genet 1993; 53: 4817.
  • 53
    Alpers B J. Diffuse progressive degeneration of the gray matter of the cerebrum. Arch Neurol Psychiatry 1931; 25: 469505.
  • 54
    Huttenlocher P R, Solitare G B, Adams G. Infantile diffuse cerebral degeneration with hepatic cirrhosis. Arch Neurol 1976; 33: 18692.
  • 55
    Narkewicz M R, Sokol R J, Beckwith B, et al. Liver involvement in Alpers Disease. J Pediatr 1991; 119: 2607.
  • 56
    Harding B N, Alsanjari N, Smith S J M, et al. Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults. J Neurol Neurosurg Psychiatry 1994; 58: 3205.
  • 57
    Morris A A, Singh-Kler R, Perry R H, et al. Respiratory chain dysfunction in progressive neuronal degeneration of childhood with liver disease. J Child Neurol 1996; 11: 4179.
  • 58
    Prick M J J, Gabreels F J M, Reiner W O, et al. Progressive infantile poliodystrophy, association with disturbed pyruvate oxidation in muscle and liver. Arch Neurol 1981; 38: 76772.
  • 59
    Tulinius M H, Holme E, Kristiansson B, et al. Mitochondrial encephalomyopathies in childhood. 2 clinical manifestations and syndromes. J Pediatr 1991; 119: 2519.
  • 60
    Peters H, Chow C W, Kirby D, et al. Respiratory chain complex I and other defects in Alpers disease. J Inherit Metab Dis 1998; 21: 75.
  • 61
    Edery P, Gerard B, Chretien D, et al. Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure. Eur J Pediatr 1994; 153: 1904.
  • 62
    Rustin P, Chretien D, Bourgeron T, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994; 228: 3551.
  • 63
    Trijbels J M F, Scholte H R, Ruitenbeek W, et al. Problems with the biochemical diagnosis in mitochondrial (encephalo-) myopathies. Eur J Pediatr 1993; 152: 17884.
  • 64
    Johnson M A, Bindoff L A, Turnbull D M. Cytochrome c oxidase activity in single muscle fibres: assay techniques and diagnostic applications. Ann Neurol 1993; 33: 2835.
  • 65
    Morris A A, Leonard J V. The treatment of congenital lactic acidoses. J Inherit Metab Dis 1996; 19: 57380.
  • 66
    Ogasahawa S, Engel A G, Frens D, Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A 1989; 86: 237982.
  • 67
    Matthews P M, Ford B, Dandurand R J, et al. Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease. Neurology 1993; 43: 88490.
  • 68
    Bernsen P L, Gabreels F J, Ruitenbeek W, Hamburger H L. Treatment of complex I deficiency with riboflavin. J Neurol Sci 1993; 118: 1817.
  • 69
    Eleff S, Kennaway N G, Buist N R M, et al. 31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc Natl Acad Sci USA 1984; 81: 352933.
  • 70
    De Stefano N, Matthews P M, Ford B, et al. Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology 1995; 45: 11938.
  • 71
    Thomson M, McKiernan P, Buckels J, et al. Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplantation. J Pediatr Gastroenterol Nutr 1998; 26: 47881.
  • 72
    Bernes S M, Bacino C, Prezant T R, et al. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Pediatr 1993; 123: 598602.
  • 73
    Blake J C, Taanman J-W, Morris A A, et al. Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures. Am J Pathol (in press).
  • 74
    Wanders R J A, Ruiter J P N, Wijburg F A, et al. Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin permeabilised cells. J Inherit Metab Dis 1996; 19: 1336.
  • 75
    Blok R B, Gook D A, Thorburn D R, Dahl H-H M. Skewed segregation of the mtDNA nt 8993 (T to G) mutation in human oocytes. Am J Hum Genet 1997; 60: 14951501.
  • 76
    Harding A E, Holt I J, Sweeny M G, et al. Prenatal diagnosis of mitochondrial DNA8993 T-G disease. Am J Hum Genet 1992; 50: 62933.
  • 77
    Poulton J, Macaulay V, Marchington D R. Is the bottleneck cracked Am J Hum Genet 1998; 62: 7527.