A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy

Pediatric Research

Volumn 42, Issue 4, 1997, Pages 448-454

  Verma, Ashok ^a   Piccoli, David A ^b   Bonilla, Eduardo ^c   Berry, Gerard T ^b   DiMauro, Salvatore ^c   Moraes, Carlos T ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c The New York Presbyterian Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BENIGN CHILDHOOD EPILEPSY; CASE REPORT; CHILD; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; GASTROINTESTINAL SYMPTOM; GENE MUTATION; HUMAN; MALE; MOLECULAR GENETICS; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030843425     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199710000-00005     Document Type: Article

References (48)

1. DiMauro S 1993 Mitochondrial encephalomyopathies. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM (eds) The Metabolic and Genetic Basis of Neurological Disease. Butterworth-Heinemann, Boston, pp 665-694
2. DiMauro S, Moraes CT 1993 Mitochondrial encephalomyopathies. Arch Neurol 50:1197-1208
3. Rotig A, Cormier V, Blanche S, Bonnefont SP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM, Munnich A 1990 Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy. J Clin Invest 86:1601-1608
4. Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreeta F, Bonilla E, Schon EA, DiMauro S 1991 mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 48:492-501
5. Rotig A, Bessis JL, Romero N, Cormier V, Saudubray J, Narcy P, Lenoir G, Rustin P, Munnich A 1992 Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia. Am J Hum Genet 50:364-370
6. Ballinger SW Shoffner JM Hedaya EV Trounce I Polak MA Koontz DA Wallace DC 1992 Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet 1:11-15
7. Ozawa T, Tanaka M, Sugiyama S, Hattori K, Ito I, Ohno K, Takahashi A, Sato W, Takada G, Mayumi B, Yamato K, Adachi K, Koga Y, Toshima H 1990 Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun 170:830-836
8. Hattori K, Ogawa T, Kondo T, Mochizuki M, Tanaka M, Sugiyama S, Ito T, Satake T, Ozawa T 1991 Cardiomyopathy with mitochondrial DNA mutations. Am Heart J 122:866-869
9. Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC, Servidei S, Nonaka I, Koga Y, Spiro AJ, Brownelik W, Schmidt B, Schotland L, Zupac M, DeVivo DC, Schon EA, Rowland LP 1989 Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320:1293-1299
10. Lertrit P, Noer AS, Byrne E, Marzuki S. 1992 Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy. Hum Genet 90:251-254
11. Okamura K, Santa T, Nagae K, Omae T. 1976 Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria. J Neurol Sci 27:79-91
12. Bardosi A, Creutzfeldt W, DiMauro S, Felgenhauer K, Friede RL, Goebel HH, Kohlschutter A, Mayer G, Rahlf G, Servidei S, VanLessen G, Wetterling T 1987 Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol 74:248-258
13. Faber J, Fich A, Steinberg A, Steiner I, Granot E, Alon I, Rachmilevitz D, Freier S, Gilai A 1987 Familial intestinal pseudoobstruction dominated by a progressive neurologic disease at a young age. Gastroenterology 92:786-790
14. Simon LT, Horoupian DS, Dorfman LJ, Marks M, Herrick MK, Wasserstein P, Smith ME 1990 Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome. Ann Neurol 28:349-360
15. Cave DR, Compton CC. 1990 Case records of the Massachusetts General Hospital: case 12-1990. N Engl J Med 322:829-841
16. Blake D, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace AE, Butler I, DiMauro S 1990 MNGIE syndrome: report of two new patients. Neurology 40(suppl 1):294(abstr)
17. Uncini A, Servidei S, Silvestri G, Manfredi G, Sabatelli A, DiMuzio A, Ricci E, Mirabella M, DiMauro S, Tonali P 1994 Ophthalmoplegia, demyelinating neuropathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name. Muscle Nerve 17:667-674
18. Cormier-Daire V, Bonnefont JP, Rustin P, Maurage C, Ogier H, Schmitz J, Ricour C, Saundubray JM, Munnich A, Rotig A 1994 Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 124:63-70
19. Sabatelli M, Servidei S, Ricci E, Manfredi C, Mirabella M, Tonali P, Uncini A, DiMuzio A, Gambi D, Silvestri G, DiMauro S 1992 Myo-neuro-gastro-intestinal disease and encephalopathy (MNGIE syndrome): a patient with multiple deletions of mitochondrial DNA. Neurology 42(suppl 3):414(abstr)
20. Threlkeld AB, Miller NR, Golnik KC, Griffin GW, Kuncl RW, Johns DR, Lehar M, Hurko O 1992 Ophthalmic involvement in myo-neuro-gastro-intestinal encephalopathy syndrome. Am J Ophthalmol 114:322-328
21. Li V, Hostein J, Romero NB, Marsac C, Mezin P, Bost R, Degoul F, Fardeau M, Fournet J 1992 Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia: a muscular biochemistry study of a mitochondrial disorder. Dig Dis Sci 37:456-463
22. Cervera R, Bruix J, Bayes A, Blesa R, Illa I, Coll J, Garcia-Puges AM 1988 Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy. Gut 29:544-547
23. Ionasescu VV, Thompson SH, Ionasescu R, Searby CH, Anura S, Christensen J, Miros F, Heart M, Bosch P 1983 Inherited ophthalmoplegia with intestinal pseudoobstruction. J Neurol Sci 59:215-228
24. Ionasescu V, Thompson SH, Aschenbrener C, Anuras S, Risk WS 1984 Letter to the editor: late-onset oculogastrointestinal dystrophy. Am J Med Genet 18:781-788
25. Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE, Trelkeld AB, Mitsumoto H, Salberg LM, Rowland LP, DiMauro S 1994 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44:721-727
26. DiMauro S, Bonilla E 1997 Mitochondrial encephalomyopathies. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL (eds) The molecular and genetic bases of neurological diseases. Butterworth-Heinemann, Boston
27. Bonilla E, Sciacco M, Tanzi K, Sparaco M, Petruzella V, Moraes CT 1992 New morphological approaches to the study of mitochondrial encephalomyopathies. Brain Pathol 2:113-119
28. DiMauro S, Servidei S, Zeviani M, DiRocco M, DeVivo DC, DiDonato S, Uziel G, Berry K, Hoganson G, Johnson SD, Johnson PC 1987 Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 22:498-506
29. Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, Rowland LP 1988 Deletions of mitochondrial DNA in Kearns-Syare syndrome. Neurology 38:1339-1346
30. Lys gene associated with myoclonic epilepsy and ragged red fibers (MERRF). Am J Hum Genet 51:1213-1217
31. Verma A, Moraes CT 1996 A simple endonuclease/single-strand conformational polymorphism technique to search for pathogenic mutations in human mitochondrial genome. Neurology 46(suppl 2):A228(abstr)
32. Hao H, Bonilla E, Manfredi G, DiMauro S, Moraes CT 1995 Segregation pattern of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. Am J Hum Genet 56:1017-1025
33. Anderson S, Bankier AT, Barrell BG, deBruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG 1981 Sequence and organization of the human mitochondrial genome. Nature 290:457-465
34. Leu(UUR) mutation in MELAS: genetic, biochemical, and morphological correlation in skeletal muscle. Am J Hum Genet 50:934-949
35. Lys mutation. Cell 61:931-937
36. Verma A, Moraes CT, Shebert RT, Bradley WG 1996 A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation. Neurology 46:1334-1336
37. Silvestri G, Ciafaloni E, Santorelli F, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S 1993 Clinical features associated with the A → G transition at nucleotide 8344 of mtDNA ('MERRF' mutation). Neurology 43:1200-1206
38. Pavlakis SG, Rowland LP, De Vivo DC, Bonilla E, DiMauro S 1988 Mitochondrial myopathies and encephalomyopathies. In: Plum F (ed) Advances in Contemporary Neurology. FA Davis, Philadelphia, pp 95-133
39. Holt IJ, Harding AE, Morgan-Hughes JA 1990 A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46:428-433
40. Furnes JB, Costa M 1987 The Enteric Nervous System. Churchill Livingstone, New York
41. Goyal RK, Hirano I 1996 The enteric nervous system. N Engl J Med 334:1106-1115
42. Ikeda SI, Makishita H, Oguchi K, Yanagisawa N, Nagata T 1982 Gastrointestinal amyloid deposition in familial amyloid polyneuropathy. Neurology 32:1364-1368
43. Krishnamurthy S, Schuffler MD 1987 Pathology of neuromuscular disorders of the small intestine and colon. Gatroenterology 93:610-639
44. Cockel R, Hill EE, Ruston DI, Smith B, Howkins CF 1973 Familial steatorrhea with calcification of the basal ganglia and mental retardation. Q J Med 42:771-783
45. Engel AG, Yamamoto M, Fischbeck KH 1994 Dystrophinopathies. In: Engel AG, Franzini-Armstrong C (eds) Myology, 2nd Ed. McGraw-Hill, New York, p 1144
46. Yoshida MM, Krishnamurthy S, Wattchow DA, Furness JB, Schuffler MD 1988 Megacolon in myotonic dystrophy caused by a degenerative neuropathy of the myenteric plexus. Gastroenterology 95:820-827
47. Schuffner MD, Baird HW, Fleming CR, Bell CE, Bouldin TW, Malagelada JR, McGill DB, LeBauer SM, Abrams M, Love J 1983 Intestinal pseudoobstruction as a presenting manifestation of small-cell carcinoma of the lung. Ann Intern Med 98:129-134
48. May RJ, Goyal RK 1994 Effects of diabetes mellitus on the digestive system. In: Kahn CR, Weir GC (eds) Joslin's Diabetes Mellitus, 13th Ed. Lea & Febiger, Philadelphia, pp 921-954