Gastrointestinal manifestations of mitochondrial disease

Gastroenterology Clinics of North America

Volumn 32, Issue 3, 2003, Pages 789-817

  Gillis, Lynette A ^a   Sokol, Ronald J ^b,c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b University of Colorado Denver and Children s Hospital Colorado   (United States)

^c UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ALPHA TOCOPHEROL; ASCORBIC ACID; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; CREATINE; DICHLOROACETIC ACID; DIDANOSINE; ELECTRON TRANSFERRING FLAVOPROTEIN; FIALURIDINE; FLAVOPROTEIN; IDEBENONE; KETONE BODY; LACTIC ACID; MITOCHONDRIAL DNA; NUCLEOSIDE ANALOG; PYRUVIC ACID; RIBOFLAVIN; RNA DIRECTED DNA POLYMERASE INHIBITOR; STAVUDINE; SUCCINIC ACID; THIAMINE; UBIQUINONE; UNCLASSIFIED DRUG; VALPROIC ACID; ZALCITABINE; ZIDOVUDINE;

ABDOMINAL PAIN; ALPERS DISEASE; BLOOD CLOTTING DISORDER; CEREBROSPINAL FLUID EXAMINATION; CHRONIC DIARRHEA; CLINICAL FEATURE; CONSTIPATION; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG MECHANISM; ELECTRON TRANSPORT; ENZYME DEFICIENCY; FATIGUE; FATTY ACID OXIDATION; GASTROINTESTINAL DISEASE; GENE MUTATION; HUMAN; HYPERAMMONEMIA; HYPERLACTATEMIA; INTESTINE PSEUDOOBSTRUCTION; JAUNDICE; LABORATORY DIAGNOSIS; LACTIC ACIDOSIS; LIVER FAILURE; LIVER FATTY DEGENERATION; LIVER MITOCHONDRION; LIVER TRANSPLANTATION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL RESPIRATION; MNGIE SYNDROME; MUSCLE BIOPSY; NAUSEA; NAVAJO NEUROHEPATOPATHY; NEWBORN DISEASE; PANCREATITIS; PEARSON SYNDROME; PERIPHERAL NEUROPATHY; RESPIRATORY CHAIN; REVIEW; REYE SYNDROME; SCREENING TEST; TOXIC HEPATITIS; WILSON DISEASE;

EID: 0141682697     PISSN: 08898553     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-8553(03)00052-9     Document Type: Review

References (105)

1. Nass S, Nass M. Intramitochondrial fibers with DNA characteristics. J Cell Biol 1963;19:593-629.
2. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-65.
3. Shoffner JM. Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, et al, editors. The Metabolic & Molecular Basis of Inherited Disease. 8th edition. New York: McGraw-Hill; 2001, vol II, p. 2367-423.
4. Kerr DS. Protean manifestations of mitochondrial diseases: a minireview. J Pediatr Hematol Oncol 1997;19:279-86.
5. Wallace DC. Mitochondrial genetics: A paradigm for aging and degenerative diseases?. Science 1992;256:628-32.
6. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-9.
7. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-30.
8. Chinnery PF, Howell N, Andrews RM, et al. Mitochondrial DNA analysis: polymorphisms and pathogenicity. J Med Genet 1999;36:505-10.
9. Chinnery PF, Johnson MA, Wardell TM, et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000;48:188-93.
10. Majamaa K, Moilanen JS, Uimonen S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 1998;63:447-54.
11. Uusimaa J, Remes AM, Rantala H, et al. Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders. Pediatrics 2000;105:598-603.
12. Darin N, Oldfors A, Moslemi AR, et al. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities. Ann Neurol 2001;49:377-83.
13. Chinnery PF, Turnbull DM. Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 2001;106:94-101.
14. Munnich A, Rotig A, Chretien D, et al. Clinical presentation of mitochondrial disorders in childhood. J Inherit Metab Dis 1996;19:521-7.
15. Sokol RJ, Treem WR. Mitochondrial hepatopathies. In: Suchy FJ, Sokol RJ, Balistreri WF, editors. Liver Disease in Children. 2nd edition, Philadelphia: Lippincott, Williams & Wilkins; 2001. p, 787-810.
16. Leonard JV, Schapira AH, Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 2000;355:299-304.
17. Briones P, Vilaseca MA, Ribes A, et al. A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60. J Inherit Metab Dis 1997;20:569-77.
18. Koehler CM, Leuenberger D, Merchant S, et al. Human deafness dystonia syndrome is a mitochondrial disease. Proc Natl Acad Sci USA 1999;96:2141-6.
19. Zhu Z, Yao J, Johns T, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 1998;20:337-43.
20. Vilaseca MA, Briones P, Ribes A, et al. Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase. J Inherit Metab Dis 1991;14:285-8.
21. Cormier-Daire V, Chretien D, Rustin P, et al. Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. J Pediatr 1997;130:817-22.
22. Bioulac-Sage P, Parrot-Roulaud F, Mazat JP, et al. Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. Hepatology 1993;18:839-46.
23. Thomson M, McKiernan P, Buckels J, et al. Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood. J Pediatr Gastroenterol Nutr 1998;26:478-81.
24. Delarue A, Paut O, Guys JM, et al. Inappropriate liver transplantation in a child with Alpers-Huttenlocher syndrome misdiagnosed as valproate-induced acute liver failure. Pediatr Transplant 2000;4:67-71.
25. Sokal EM, Sokol R, Cormier V, et al. Liver transplantation in mitochondrial respiratory chain disorders. Eur J Pediatr 1999;158(Suppl 2):S81-4.
26. de Lonlay P, Valnot I, Barrientos A, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001;29:57-60.
27. Narkewicz MR, Sokol RJ, Beckwith B, et al. Liver involvement in Alpers disease. J Pediatr 1991;119:260-7.
28. Gauthier-Villars M, Landrieu P, Cormier-Daire V, et al. Respiratory chain deficiency in Alpers syndrome. Neuropediatrics 2001;32:150-2.
29. Egger J, Harding BN, Boyd SG, et al. Progressive neuronal degeneration of childhood (PNDC) with liver disease. Clin Pediatr (Phila) 1987;26:167-73.
30. Tulinius MH, Holme E, Kristiansson B, et al. Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations. J Pediatr 1991;119:242-50.
31. Bakker HD, Scholte HR, Dingemans KP, et al. Depletion of mitochondrial DNA in a family with fatal neonatal liver disease. J Pediatr 1996;128:683-7.
32. Ducluzeau PH, Lachaux A, Bouvier R, et al. Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis. J Hepatol 1999;30:149-55.
33. Fayon M, Lamireau T, Bioulac-Sage P, et al. Fatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites. Gastroenterology 1992;103:1332-5.
34. Maaswinkel-Mooij PD, Van den Bogert C, Scholte HR, et al. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr 1996;128:679-83.
35. Muller-Hocker J, Muntau A, Schafer S, et al. Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis. Hum Pathol 2002;33:247-53.
36. Mazziotta MR, Ricci E, Bertini E, et al. Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 1992;121:896-901.
37. Moraes CT, Shanske S, Tritschler HJ, et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991;48:492-501.
38. Tsao CY, Mendell JR, Luquette M, et al. Mitochondrial DNA depletion in children. J Child Neurol 2000;15:822-4.
39. Morris AA, Taanman JW, Blake J, et al. Liver failure associated with mitochondrial DNA depletion. J Hepatol 1998;28:556-63.
40. Mandel H, Hartman C, Berkowitz D, et al. The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies. Hepatology 2001;34:776-84.
41. Durand P, Debray D, Mandel R, et al. Acute liver failure in infancy: a 14-year experience of a pediatric liver transplantation center. J Pediatr 2001;139:871-6.
42. Jullig M, Eriksson S. Mitochondrial and submitochondrial localization of human deoxyguanosine kinase. Eur J Biochem 2000;267:5466-72.
43. Wang L, Munch-Petersen B, Herrstrom Sjoberg A, et al. Human thymidine kinase 2: molecular cloning and characterisation of the enzyme activity with antiviral and cytostatic nucleoside substrates. FEBS Lett 1999;443:170-4.
44. Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial, DNA. Nat Genet 2001;29:337-41.
45. Saada A, Shaag A, Mandel H, et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-4.
46. Salviati L, Sacconi S, Mancuso M, et al. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol 2002;52:311-7.
47. Ionasescu V, Thompson SH, Ionasescu R, et al. Inherited ophthalmoplegia with intestinal pseudo-obstruction. J Neurol Sci 1983;59:215-28.
48. Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721-7.
49. Bardosi A, Creutzfeldt W, DiMauro S, et al. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol (Berl) 1987;74:248-58.
50. Hirano M, Vu TH. Defects of intergenomic communication: where do we stand? Brain Pathol 2000;10:451-61.
51. Cervera R, Bruix J, Bayes A, et al. Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy. Gut 1988;29:544-7.
52. Li V, Hostein J, Romero NB, et al. Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia. A muscular biochemical study of a mitochondrial disorder. Dig Dis Sci 1992;37:456-63.
53. Teitelbaum JE, Berde CB, Nurko S, et al. Diagnosis and Management of MNGIE Syndrome in Children: Case Report and Review of the Literature. J Pediatr Gastroenterol Nutr 2002;35:377-83.
54. Hirano M, Garcia-de-Yebenes J, Jones AC, et al. Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. Am J Hum Genet 1998;63:526-33.
55. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-92.
56. Nishino I, Spinazzola A, Papadimitriou A, et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000;47:792-800.
57. Brown NS, Bicknell R. Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis. Biochem J 1998;334(Pt 1):1-8.
58. Spinazzola A, Marti R, Nishino I, et al. Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 2002;277:4128-33.
59. Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979;95:976-84.
60. Morikawa Y, Matsuura N, Kakudo K, et al. Pearson's marrow/pancreas syndrome: a histological and genetic study. Virchows Arch A Pathol Anat Histopathol 1993;423:227-31.
61. Krahenbuhl S, Kleinle S, Henz S, et al. Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome. J Hepatol 1999;31:550-5.
62. Gibson KM, Bennett MJ, Mize CE, et al. 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr 1992;121:940-2.
63. Rotig A, Cormier V, Blanche S, et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 1990;86:1601-8.
64. McShane MA, Hammans SR, Sweeney M, et al. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet 1991;48:39-42.
65. Blatt J, Katerji A, Barmada M, et al. Pancytopenia and vacuolation of marrow precursors associated with necrotizing encephalopathy. Br J Haematol 1994;86:207-9.
66. Rotig A, Bourgeron T, Chretien D, et al. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 1995;4:1327-30.
67. Poulton J, Deadman ME, Ramacharan S, et al. Germ-line deletions of mtDNA in mitochondrial myopathy. Am J Hum Genet 1991;48:649-53.
68. Bernes SM, Bacino C, Prezant TR, et al. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Pediatr 1993;123:598-602.
69. Warner TT, Schapira AH. Genetic counselling in mitochondrial diseases. Curr Opin Neurol 1997;10:408-12.
70. Cormier-Daire V, Bonnefont JP, Rustin P, et al. Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 1994;124:63-70.
71. Verma A, Piccoli DA, Bonilla E, et al. A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy. Pediatr Res 1997;42:448-54.
72. Santorelli FM, Villanova M, Malandrini A, et al. Chronic diarrhea associated with the A3243G mtDNA mutation. Neurology 2000;54:266-7.
73. Muehlenberg K, Fiedler A, Schaumann I, et al. Intestinal pseudoobstructions and gastric necrosis in mitochondrial myopathy. Dtsch Med Wochenschr 2002;127:611-5.
74. Chinnery PF, Jones S, Sviland L, et al. Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract. Gut 2001;48:121-4.
75. Hess J, Burkhard P, Morris M, et al. Ischaemic colitis due to mitochondrial cytopathy. Lancet 1995;346:189-90.
76. Kishimoto M, Hashiramoto M, Kanda F, et al. Mitochondrial mutation in diabetic patient with gastrointestinal symptoms. Lancet 1995;345:452.
77. Aoki Y, Hosaka S, Kiyosawa K. Intestinal pseudo-obstruction in a diabetic man: role of the mitochondrial A3243G mutation. Ann Intern Med 2002;137:703-4.
78. Buzzi MG, Di Gennaro G, D'Onofrio M, et al. mtDNA A3243G MELAS mutation is not associated with multigenerational female migraine. Neurology 2000;54:1005-7.
79. Appenzeller O, Kornfeld M, Snyder R. Acromutilating, paralyzing neuropathy with corneal ulceration in Navajo children. Arch Neurol 1976;33:733-8.
80. Holve S, Hu D, Shub M, et al. Liver disease in Navajo neuropathy. J Pediatr 1999;135:482-93.
81. Williams KD, Drayer BP, Johnsen SD, et al. MR imaging of leukoencephalopathy associated with Navajo neuropathy. AJNR Am J Neuroradiol 1990;11:400-2.
82. Vu TH, Tanji K, Holve SA, et al. Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome? Hepatology 2001;34:116-20.
83. Glasgow JF, Middleton B, Moore R, et al. The mechanism of inhibition of beta-oxidation by aspirin metabolites in skin fibroblasts from Reye's syndrome patients and controls. Biochim Biophys Acta 1999;1454:115-25.
84. Heubi JE, Daugherty CC, Partin JS, et al. Grade I Reye's syndrome-outcome and predictors of progression to deeper coma grades. N Engl J Med 1984;311:1539-42.
85. Orlowski JP. Whatever happened to Reye's syndrome? Did it ever really exist? Crit Care Med 1999;27:1582-7.
86. Sternlieb I. Mitochondrial and fatty changes in hepatocytes of patients with Wilson's disease. Gastroenterology 1968;55:354-67.
87. Sokol RJ, Twedt D, McKim JM Jr., et al. Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis. Gastroenterology 1994;107:1788-98.
88. Mansouri A, Gaou I, Fromenty B, et al. Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease. Gastroenterology 1997;113:599-605.
89. Chabrol B, Mancini J, Chretien D, et al. Valproate-induced hepatic failure in a case of cytochrome c oxidase deficiency. Eur J Pediatr 1994;153:133-5.
90. McKenzie R, Fried MW, 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;333:1099-105.
91. Swartz MN. Mitochondrial toxicity - new adverse drug effects. N Engl J Med 1995;333:1146-8.
92. Cote HC, Brumme ZL, Craib KJ, et al. Changes in mitochondrial DNA as a marker of nucleoside toxicity in HIV-infected patients. N Engl J Med 2002;346:811-20.
93. Falco V, Rodriguez D, Ribera E, et al. Severe nucleoside-associated lactic acidosis in human immunodeficiency virus-infected patients: report of 12 cases and review of the literature. Clin Infect Dis 2002;34:838-46.
94. Sokol RJ, Winklhofer-Roob BM, Devereaux MW, et al. Generation of hydroperoxides in isolated rat hepatocytes and hepatic mitochondria exposed to hydrophobic bile acids. Gastroenterology 1995;109:1249-56.
95. Krahenbuhl S, Stucki J, Reichen J. Reduced activity of the electron transport chain in liver mitochondria isolated from rats with secondary biliary cirrhosis. Hepatology 1992;15:1160-6.
96. Sokol RJ, Devereaux MW, Straka MS. Induction of the permeability transition in hepatic mitochondria by physiologic bile acid concentrations. Hepatology 1997;26:188A.
97. Sokol RJ, McKim JM Jr., Goff MC, et al. Vitamin E reduces oxidant injury to mitochondria and the hepatotoxicity of taurochenodeoxycholic acid in the rat. Gastroenterology 1998;114:164-74.
98. Munnich A, Rotig A, Chretien D, et al. Clinical presentations and laboratory investigations in respiratory chain deficiency. Eur J Pediatr 1996;155:262-74.
99. Trijbels JM, Scholte HR, Ruitenbeek W, et al. Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies. Eur J Pediatr 1993;152:178-84.
100. Touati G, Rigal O, Lombes A, et al. In vivo functional investigations of lactic acid in patients with respiratory chain disorders. Arch Dis Child 1997;76:16-21.
101. Parra D, Gonzalez A, Mugueta C, et al. Laboratory approach to mitochondrial diseases. J Physiol Biochem 2001;57:267-84.
102. Michaletz PA, Cap L, Alpert E, et al. Assessment of mitochondrial function in vivo with a breath test utilizing alpha-ketoisocaproic acid. Hepatology 1989;10:829-32.
103. Armuzzi A, Marcoccia S, Zocco MA, et al. Non-Invasive assessment of human hepatic mitochondrial function through the 13C-methionine breath test. Scand J Gastroenterol 2000;35:650-3.
104. Bresolin N, Doriguzzi C, Ponzetto C, et al. Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial. J Neurol Sci 1990;100:70-8.
105. Estivill X, Govea N, Barcelo E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 1998;62:27-35.