Gastroenterology
Volume 137, Issue 1 , Pages 101-109 , July 2009

Frequency of Mitochondrial Defects in Patients With Chronic Intestinal Pseudo-Obstruction

  • Aurélien Amiot

      Affiliations

    • AP-HP, Hôpital Beaujon, Pôle des maladies de l'appareil digestif, Service de Gastroentérologie et d'assistance nutritive, Clichy, France
    • Université Paris Diderot-Paris, Paris, France
    • INSERM, U975, Hôpital de La Salpêtrière, Paris, France
  • ,
  • Maya Tchikviladzé

      Affiliations

    • AP-HP, Hôpital de La Salpêtrière, Centre de référence des maladies neuromusculaires, Paris, France
  • ,
  • Francisca Joly

      Affiliations

    • AP-HP, Hôpital Beaujon, Pôle des maladies de l'appareil digestif, Service de Gastroentérologie et d'assistance nutritive, Clichy, France
    • Université Paris Diderot-Paris, Paris, France
  • ,
  • Abdelhamid Slama

      Affiliations

    • AP-HP, Hôpital Bicêtre, Service de Biochimie, Le Kremlin-Bicêtre, France
  • ,
  • Dominique Cazals Hatem

      Affiliations

    • Université Paris Diderot-Paris, Paris, France
    • AP-HP, Hôpital Beaujon, Service d'anatomie pathologique, Clichy, France
  • ,
  • Claude Jardel

      Affiliations

    • INSERM, U975, Hôpital de La Salpêtrière, Paris, France
    • AP-HP, Hôpital de La Salpêtrière, Service de Biochimie Métabolique, Paris, France
  • ,
  • Bernard Messing

      Affiliations

    • AP-HP, Hôpital Beaujon, Pôle des maladies de l'appareil digestif, Service de Gastroentérologie et d'assistance nutritive, Clichy, France
    • Université Paris Diderot-Paris, Paris, France
  • ,
  • Anne Lombès

      Affiliations

    • INSERM, U975, Hôpital de La Salpêtrière, Paris, France
    • AP-HP, Hôpital de La Salpêtrière, Service de Biochimie Métabolique, Paris, France
    • Université Pierre et Marie Curie-Paris 6 UPMC-Paris 6, Paris, France
    • Corresponding Author InformationReprint requests Address requests for reprints to: Anne Lombès, MD, PhD, INSERM 975, Hôpital Pitié-Salpêtrière,75651 Paris Cedex 13, France; fax: +331 40 16 57 00

Received 17 December 2008 ,Accepted 23 March 2009.

References 

  1. Rudolph CD, Hyman PE, Altschuler SM, et al. Diagnosis and treatment of chronic intestinal pseudo-obstruction in children: report of consensus workshop. J Pediatr Gastroenterol Nutr. 1997;24:102–112
  2. Joly F, Amiot A, Messing B. Chronic intestinal pseudo-obstruction. In:  Bozzetti F,  Staun M,  Van Gossum A editor. Home parenteral nutrition. Oxford: Oxford University Press; 2007;p. 84–94
  3. Connor FL, Di Lorenzo C. Chronic intestinal pseudo-obstruction: assessment and management. Gastroenterology. 2006;130:S29–S36
  4. De Giorgio R, Sarnelli G, Corinaldesi R, et al. Advances in our understanding of the pathology of chronic intestinal pseudo-obstruction. Gut. 2004;53:1549–1552
  5. Schuffler MD. Chronic intestinal pseudo-obstruction syndromes (Classification, diagnosis and treatment). Acta Gastroenterol Belg. 1982;45:447–459
  6. DiMauro S. Mitochondrial diseases. Biochim Biophys Acta. 2004;1658:80–88
  7. Chinnery PF, Turnbull DM. Clinical features, investigation, and management of patients with defects of mitochondrial DNA. J Neurol Neurosurg Psychiatry. 1997;63:559–563
  8. Blondon H, Polivka M, Joly F, et al. Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE). Gastroenterol Clin Biol. 2005;29:773–778
  9. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science. 1999;283:689–692
  10. Slama A, Lacroix C, Plante-Bordeneuve V, et al. Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. Mol Genet Metab. 2005;84:326–331
  11. Chang TM, Chi CS, Tsai CR, et al. Paralytic ileus in MELAS with phenotypic features of MNGIE. Pediatr Neurol. 2004;31:374–377
  12. Chinnery PF, Jones S, Sviland L, et al. Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract. Gut. 2001;48:121–124
  13. Filosto M, Mancuso M, Nishigaki Y, et al. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch Neurol. 2003;60:1279–1284
  14. Garcia-Velasco A, Gomez-Escalonilla C, Guerra-Vales JM, et al. Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease. J Intern Med. 2003;253:381–385
  15. Tanji K, Gamez J, Cervera C, et al. The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction. Acta Neuropathol. 2003;105:69–75
  16. Van Goethem G, Luoma P, Rantamaki M, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology. 2004;63:1251–1257
  17. Van Goethem G, Schwartz M, Lofgren A, et al. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet. 2003;11:547–549
  18. Dubowitz V, Brooke MH. Muscle biopsy: a modern approach. WB Saunders Company; 1973;
  19. Naviaux RK. Developing a systematic approach to the diagnosis and classification of mitochondrial disease. Mitochondrion. 2004;4:351–361
  20. Sternberg D, Chatzoglou E, Laforet P, et al. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. Brain. 2001;124:984–994
  21. Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain. 2006;129:1674–1684
  22. Bertinet DB, Tinivella M, Balzola FA, et al. Brain manganese deposition and blood levels in patients undergoing home parenteral nutrition. JPEN J Parenter Enteral Nutr. 2000;24:223–227
  23. Said G, Lacroix C, Plante-Bordeneuve V, et al. Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. J Neurol. 2005;252:655–662
  24. Messing B, Joly F. Guidelines for management of home parenteral support in adult chronic intestinal failure patients. Gastroenterology. 2006;130:S43–S51
  25. Attar A, Flourie B, Rambaud JC, et al. Antibiotic efficacy in small intestinal bacterial overgrowth-related chronic diarrhea: a crossover, randomized trial. Gastroenterology. 1999;117:794–797
  26. Shimotake T, Furukawa T, Inoue K, et al. Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). J Pediatr Surg. 1998;33:1837–1839
  27. Cho YP, Kim K, Han MS, et al. Severe lactic acidosis and thiamine deficiency during total parenteral nutrition—case report. Hepatogastroenterology. 2004;51:253–255
  28. Buchman AL, Iyer K, Fryer J. Parenteral nutrition-associated liver disease and the role for isolated intestine and intestine/liver transplantation. Hepatology. 2006;43:9–19
  29. Hakonen AH, Heiskanen S, Juvonen V, et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet. 2005;77:430–441
  30. Van Goethem G, Martin JJ, Dermaut B, et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord. 2003;13:133–142
  31. Winterthun S, Ferrari G, He L, et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology. 2005;64:1204–1208
  32. Davidzon G, Mancuso M, Ferraris S, et al. POLG mutations and Alpers syndrome. Ann Neurol. 2005;57:921–923
  33. Ferrari G, Lamantea E, Donati A, et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gamma. Brain. 2005;128:723–731
  34. Naviaux RK, Nguyen KV. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol. 2004;55:706–712
  35. Copeland WC. Inherited mitochondrial diseases of DNA replication. Annu Rev Med. 2008;59:131–146
  36. Leonard JV, Schapira AH. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet. 2000;355:299–304
  37. Narbonne H, Paquis-Fluckinger V, Valero R, et al. Gastrointestinal tract symptoms in Maternally Inherited Diabetes and Deafness (MIDD). Diabetes Metab. 2004;30:61–66
  38. Hirano M, Marti R, Casali C, et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology. 2006;67:1458–1460
  39. Chinnery PF, Bindoff LA. 116th ENMC international workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands. Neuromuscul Disord. 2003;13:757–764

 To view this article's video abstract, go to the AGA's YouTube Channel.

 Conflicts of interest The authors disclose no conflicts.

 Funding Aurélien Amiot was the recipient of a fellowship from Sanofi-Aventis. The work was supported by grant from the Association Française contre les myopathies (AFM).

PII: S0016-5085(09)00518-6

doi: 10.1053/j.gastro.2009.03.054

Gastroenterology
Volume 137, Issue 1 , Pages 101-109 , July 2009