Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

BMC Clinical Pathology

Volumn 9, Issue 1, 2009, Pages

  Roels, Frank ^a   Verloo, Patrick ^a   Eyskens, François ^b   François, Baudouin ^c   Seneca, Sara ^d   De Paepe, Boel ^a   Martin, Jean Jacques ^e   Meersschaut, Valerie ^a   Praet, Marleen ^a   Scalais, Emmanuel ^f   Espeel, Marc ^g   Smet, Joél ^a   Van Goethem, Gert ^h   Van Coster, Rudy ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b Metabolic Unit   (Belgium)

^c Centre Pinocchio CHC Clinique de l'Espérance   (Belgium)

^d UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f CENTRE HOSPITALIER DE LUXEMBOURG   (Luxembourg)

^g GHENT UNIVERSITY   (Belgium)

^h ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ALPERS DISEASE; ARTICLE; BRAIN CORTEX ATROPHY; CASE REPORT; DNA DETERMINATION; ELECTRON MICROSCOPY; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC DISORDER; HUMAN; IMMUNOCYTOCHEMISTRY; IMMUNOLOCALIZATION; INFANT; LIVER BIOPSY; LYMPHOCYTE; MALE; MICROSCOPY; MOSAICISM; MUSCLE BIOPSY; MUSCLE TISSUE; PEARSON SYNDROME; PROTEIN LOCALIZATION; RESPIRATORY CHAIN; WHITE MATTER;

EID: 67651152870     PISSN: 14726890     EISSN: 14726890     Source Type: Journal    
DOI: 10.1186/1472-6890-9-4     Document Type: Article

References (62)

1. Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophtalmoplegia. Cytochemical-fine-structural study. J Mueller-Hoecker D Pongratz G Hubner, Virchows Archiv A-Pathological Anatomy and Histopathology 1983 402 1 61 71 10.1007/BF00695049
2. Fatal mitochondrial cardiomyopathy in Kears-Sayre syndrome with deficiency of cytochrome-c-oxidase in cardiac and skeletal muscle. An enzymehistochemical-ultraimmunochemical-fine structural study in muscle in long-frozen autopsy tissue. J Mueller-Hoecker A Johannes M Droste B Kadenbach D Pongratz G Hubner, Virchows Archiv B-Cell Pathology Including Molecular Pathology 1986 52 4 353 367 10.1007/BF02889977
3. Cytochrome-c oxidase deficiency in infancy. A Oldfors H Sommerland E Holme M Tulinius B Kristiansson, Acta Neuropathologica 1989 77 3 267 275 10.1007/BF00687578 2538042 (Pubitemid 19044193)
4. Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres. AR Moslemi M Tulinius E Holme A Oldfors, Neuromuscular Disorders 1998 8 5 345 349 10.1016/S0960-8966(98)00029-7 9673990 (Pubitemid 28323060)
5. Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres. PF Chinnery D Howel DM Turnbull MA Johnson, Journal of the Neurological Sciences 2003 211 1- 2 63 66 12767499
6. Spectrum of myopathic findings in 50 patients with the 3243A > G mutation in mitochondrial DNA. M Karppa R Herva AR Moslemi A Oldfors S Kakko K Majamaa, Brain 2005 128 1861 1869 10.1093/brain/awh515 15857931 (Pubitemid 41373658)
7. Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-fine-structural identification of cytochrome-c oxidase in longterm frozen muscle. J Mueller-Hoecker D Pongratz T Deufel JMF Trijbels W Endres G Hubner, Virchows Archiv A-Pathological Anatomy and Histopathology 1983 399 1 11 23 10.1007/BF00666215
8. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. G Hudson P Amati-Bonneau EL Blakely JD Stewart LP He AM Schaefer PG Griffiths K Ahlqvist A Suomalainen P Reynier, Brain 2008 131 329 337 10.1093/brain/awm272 18065439 (Pubitemid 351197604)
9. Pearson syndrome and mitochondrial encephalopathy in a patient with a deletion of mtDNA. MA McShane SR Hammans M Sweeney IJ Holt TJ Beattie EM Brett AE Harding, American Journal of Human Genetics 1991 48 1 39 42 1985462
10. MUSCLE HISTOPATHOLOGY IN MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS (MERRF). T Matsuoka Y Goto M Yoneda I Nonaka, Journal of the Neurological Sciences 1991 106 2 193 198 10.1016/0022-510X(91)90257-8 1666407
11. SEGREGATION AND MANIFESTATIONS OF THE MTDNA TRANS RNALYS A-]G(8344) MUTATION OF MYOCLONUS EPILEPSY AND RAGGED-RED FIBERS (MERRF) SYNDROME. NG Larsson MH Tulinius E Holme A Oldfors O Andersen J Wahlstrom J Aasly, American Journal of Human Genetics 1992 51 6 1201 1212 1463006
12. TISSUE DISTRIBUTION AND DISEASE MANIFESTATIONS OF THE TRNA(LYS) A-]G((8344)) MITOCHONDRIAL-DNA MUTATION IN A CASE OF MYOCLONUS EPILEPSY AND RAGGED-RED FIBERS. A Oldfors E Holme M Tulinius NG Larsson, Acta Neuropathologica 1995 90 3 328 333 8525809
13. Mitochondrial myopathies. NG Larsson A Oldfors, Acta Physiologica Scandinavica 2000 171 3 385 393 10.1046/j.1365-201x.2001.00842.x
14. Homoplasmy, heteroplasmy, and mitochondrial dystonia. R McFarland PF Chinnery EL Blakely AM Schaefer AAM Morris SM Foster HAL Tuppen V Ramesh PJ Dorman M Turnbull, Neurology 2007 69 9 911 916 10.1212/01.wnl.0000267843.10977. 4a 17724295 (Pubitemid 47329592)
15. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. JD Stewart S Tennant H Powell A Pyle EL Blakely L He G Hudson M Roberts D du Plessis D Gow, J Med Genet 2009 46 209 214 10.1136/jmg.2008.058180 19251978
16. Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis. J Mueller-Hoecker A Muntau S Schafer M Jaksch F Staudt D Pongratz JW Taanman, Human Pathology 2002 33 2 247 253 10.1053/hupa.2002.31477 11957153 (Pubitemid 34298743)
17. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. RK Naviaux KV Nguyen, Annals of Neurology 2004 55 5 706 712 10.1002/ana.20079 15122711 (Pubitemid 38544331)
18. POLG mutations in Alpers syndrome. KV Nguyen E Ostergaard SH Ravn T Balslev ER Danielsen A Vardag PJ McKiernan G Gray RK Naviaux, Neurology 2005 65 9 1493 1495 10.1212/01.wnl.0000182814.55361.70 16177225 (Pubitemid 41552791)
19. POLG mutations and Alpers syndrome. G Davidzon M Mancuso S Ferraris C Quinzii M Hirano HL Peters D Kirby DR Thorburn S DiMauro, Annals of Neurology 2005 57 6 921 923 10.1002/ana.20498 15929042 (Pubitemid 40798632)
20. Mitochondrial mosaics in the liver of patients with Pearson and Alpers-Huttenlocher syndromes. F Roels P Verloo S Seneca V Meersschaut F Eyskens J Smet JJ Martin M Praet R Van Coster, Journal of Inherited Metabolic Disease 2006 29, supplement 119 http://springerlink.metapress.com/content/ c211142067v47j66/fulltext.pdf
21. Muscle biopsy. A practical approach. V Dubowitz, London: Baillière Tindall 2 1985
22. Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB). AM Seligman MJ Karnovsky HL Wasserkrug JS Hanker, Journal of Cell Biology 1968 38 1 1 14 4300067 10.1083/jcb.38.1.1
23. Visualisation of peroxisomes (microbodies) and mitochondria with diaminobenzidine. AB Novikoff S Goldfischer, Journal of Histochemistry & Cytochemistry 1969 17 10 675 680 4194356
24. Cytochrome-c and cytochrome oxidase in diaminobenzidine staining of mitochondria. F Roels, J Histochem Cytochem 1974 22 6 442 444 Erratum: 22(9):915 4135400
25. Ultrastructural localisation of cytochrome c, in the oocyte of Artemia salina, with 3,3-diaminobenzidine at pH9. F Roels, Comptes Rendus hebdomadaires des séances de l' Academie des Sciences Serie D 1970 270 19 2322 2324 https://archive.ugent.be/handle/1854/LU-699641 4997607
26. Blue native polyacrylamide gel electrophoresis: A powerful tool in diagnosis of oxidative phosphorylation defects. R Van Coster J Smet E George L De Meirleir S Seneca J Van Hove G Sebire H Verhelst J De Bleecker B Van Vlem, Pediatric Research 2001 50 5 658 665 10.1203/00006450-200111000-00020 11641463
27. Linezolid-induced inhibition of mitochondrial protein synthesis. AS De Vrieze R Van Coster J Smet S Seneca A Lovering LL Van Haute LJ Vanopdenbosch JJ Martin C Ceuterick-de Groote S Vandecasteele, Clinical Infectious Diseases 2006 42 8 1111 1117 10.1086/501356 16575728
28. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. G Van Goethem B Dermaut A Lofgren JJ Martin C Van Broeckhoven, Nature Genetics 2001 28 3 211 212 10.1038/90034 11431686 (Pubitemid 32626018)
29. Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects. B De Paepe J Smet JG Leroy S Seneca E George D Matthys L Van Maldergem E Scalais W Lissens L De Meirleir, Pediatric Research 2006 59 1 2 6 10.1203/01.pdr.0000191294.34122.ab 16327006 (Pubitemid 43754445)
30. Mutations of mitochondrial DNA polymerase gamma A are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. E Lamantea V Tiranti A Bordoni A Toscano F Bono S Servidei A Papadimitriou H Spelbrink L Silvestri G Casari, Annals of Neurology 2002 52 2 211 219 10.1002/ana.10278 12210792 (Pubitemid 34810602)
31. A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease. J Uusimaa S Finnila L Vainionpaa M Karppa R Herva H Rantala IE Hassinen K Majamaa, Pediatrics 2003 111 3 e262 268 10.1542/peds.111.3.e262 12612282
32. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. E Arbustini M Diegoli R Fasani M Grasso P Morbini N Banchieri O Bellini B Dal Bello A Pilotto G Magrini, American Journal of Pathology 1998 153 5 1501 1510 9811342
33. Multiple symmetrical lipomas with high levels of mtDNA with the tRNAlysa-]G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. E Holme NG Larsson A Oldfors M Tulinius P Sahlin G Stenman, American Journal of Human Genetics 1993 52 3 551 556 8447321
34. MITOCHONDRIAL ENCEPHALOMYOPATHIES - A CORRELATION BETWEEN NEUROPATHOLOGICAL FINDINGS AND DEFECTS IN MITOCHONDRIAL-DNA. PA McKelvie JB Morley E Byrne S Marzuki, Journal of the Neurological Sciences 1991 102 1 51 60 10.1016/0022-510X(91)90093-M 1906931
35. Progressive increase of the mutated mitochondrial-DNA fraction in Kearns-Sayre syndrome. NG Larsson E Holme B Kristiansson A Oldfors M Tulinius, Pediatric Research 1990 28 2 131 136 10.1203/00006450-199028020-00011 2395603
36. Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNA(Leu(UUR)) gene mutation. O Hotta CN Inoue S Miyabayashi T Furuta A Takeuchi Y Taguma, Kidney International 2001 59 4 1236 1243 10.1046/j.1523-1755.2001.0590041236.x 11260383 (Pubitemid 32281210)
37. Deletion of mitochondrial-DNA in a case of early-onset diabetes-mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). A Rötig V Cormier P Chatelain R Francois JM Saudubray P Rustin A Munnich, Journal of Clinical Investigation 1993 91 3 1095 1098 8383698 10.1172/JCI116267 (Pubitemid 23095286)
38. Clinical presentation of respiratory chain deficiency. Arnold Munnich Agnes Rötig Valérie Cormier-Daire Pierre Rustin, The Metabolic & Molecular Basis of Inherited Disease New York: McGraw-Hill, Scriver Charles R, Beaudet Arthur L, Sly William S, Valle David, Childs Barton, Kinzler Kenneth W, Bert V, 8 2001 II 2261 2274
39. Oxidative phosphorylation diseases. JM Shoffner, The metabolic & molecular basis of inherited disease New York: McGraw-Hill, Scriver Charles R, Beaudet Arthur L, Sly William S, Valle David, Childs Barton, Kinzler Kenneth W, Bert V, 8 2001 II 2367 2423
40. Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects. LP van den Heuvel JA Smeitink RJT Rodenburg, Mitochondrion 2004 4 5-6 395 401 10.1016/j.mito.2004.07.005 16120401 (Pubitemid 39646793)
41. Störungen der mitochondrialen DNA-Synthese. PMJ Freisinger B Rolinski U Ahting R Horvath W Sperl, Neuropädiatrie in Klinik und Praxis 2008 7 4 116 121 http://www.neuropaediatrie-online.com/
42. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. F Labarthe D Dobbelaere L Devisme A De Muret C Jardel JW Taanman F Gottrand A Lombes, Journal of Hepatology 2005 43 2 333 341 10.1016/j.jhep.2005. 03.023 15964659 (Pubitemid 40956888)
43. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. A Spinazzola C Viscomi E Fernandez-Vizarra F Carrara P D'Adamo S Calvo RM Marsano C Donnini H Weiher P Strisciuglio, Nature Genetics 2006 38 5 570 575 10.1038/ng1765 16582910
44. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. M Naimi S Bannwarth V Procaccio J Pouget C Desnuelle JF Pellissier A Rötig A Munnich P Calvas C Richelme, European Journal of Human Genetics 2006 14 8 917 922 10.1038/sj.ejhg.5201627 16639411 (Pubitemid 44111629)
45. Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. RK Naviaux WL Nyhan BA Barshop J Poulton D Markusic NC Karpinski RH Haas, Annals of Neurology 1999 45 1 54 58 10.1002/1531- 8249(199901)45:1<54::AID-ART10>3.0.CO;2-B 9894877
46. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gamma A. G Ferrari E Lamantea A Donati M Filosto E Briem F Carrara R Parini A Simonati R Santer M Zeviani, Brain 2005 128 723 731 10.1093/brain/awh410 15689359 (Pubitemid 40516911)
47. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. RK Naviaux KV Nguyen, Annals of Neurology 2005 58 3 491 491 10.1002/ana.20544 16130100 (Pubitemid 41266643)
48. mtDNA DEPLETION WITH VARIABLE TISSUE EXPRESSION - A NOVEL GENETIC ABNORMALITY IN MITOCHONDRIAL DISEASES. CT Moraes S Shanske HJ Tritschler JR Aprille F Andreetta E Bonilla EA Schon S Dimauro, American Journal of Human Genetics 1991 48 3 492 501 1998336
49. Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. C Rocher JW Taanman D Pierron B Faustin G Benard R Rossignol M Malgat L Pedespan T Letellier, Journal of Bioenergetics and Biomembranes 2008 40 2 59 67 10.1007/s10863-008-9130-5
50. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. A Saada A Shaag H Mandel Y Nevo S Eriksson O Elpeleg, Nature Genetics 2001 29 3 342 344 10.1038/ng751 11687801 (Pubitemid 33096463)
51. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. O Elpeleg C Miller E Hershkovitz M Bitner-Glindzicz G Bondi-Rubenstein S Rahman A Pagnamenta S Eshhar A Saada, American Journal of Human Genetics 2005 76 6 1081 1086 15877282 10.1086/430843 (Pubitemid 40705442)
52. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA (vol 29, pg 337, 2001). H Mandel R Szargel V Labay O Elpeleg A Saada A Shalata Y Anbinder D Berkowitz C Hartman M Barak, Nature Genetics 2001 29 4 491 491 11687800
53. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. LY Wang A Limongelli MR Vila F Carrara M Zeviani S Eriksson, Molecular Genetics and Metabolism 2005 84 1 75 82 10.1016/j.ymgme.2004.09.005 (Pubitemid 40082607)
54. Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. JW Taanman JR Muddle AC Muntau, Human Molecular Genetics 2003 12 15 1839 1845 10.1093/hmg/ddg192 12874104 (Pubitemid 36944138)
55. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. P Freisinger N Futterer E Lankes K Gempel TM Berger J Spalinger A Hoerbe C Schwantes M Lindner R Santer, Archives of Neurology 2006 63 8 1129 1134 10.1001/archneur.63.8.1129 16908739 (Pubitemid 44232319)
56. Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. BM De Camaret JW Taanman S Padet M Chassagne M Mayencon P Clerc-Renaud G Mandon MT Zabot A Lachaux D Bozon, Biochemical Journal 2007 402 377 385 17073823 10.1042/BJ20060705 (Pubitemid 46383435)
57. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. E Sarzi G Steffi V Serre D Chretein S Abdethamid M Arnold NS Johannes A Rotig, Annals of Neurology 2007 62 6 579 587 10.1002/ana.21207 17722119
58. Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy. G Galassi E Lamantea F Invernizzi F Tavani I Pisano I Ferrero L Palmieri M Zeviani, Neuromuscular Disorders 2008 18 6 465 470 10.1016/j.nmd.2008.03.013 18504126
59. Reversion of mtDNA depletion in a patient with TK2 deficiency. MR Vila T Segovia-Silvestre J Gamez A Marina AB Naini A Meseguer A Lombes E Bonilla S DiMauro M Hirano, Neurology 2003 60 7 1203 1205 12682338
60. Respiratory chain deficiency in Alpers syndrome. M Gauthier-Villars P Landrieu V Cormier-Daire E Jacquemin D Chretien A Rotig P Rustin A Munnich P de Lonlay, Neuropediatrics 2001 32 3 150 152 10.1055/s-2001-16614 11521212 (Pubitemid 32747628)
61. Krankheitsverlauf bei 10 kindern mit polymerase-Gamma-Mutationen. JRJ Koch JA Mayr B Plecko E Haberlandt D Karall A Tscharre R Schwarz L Rauter H Lauffer F Tegtmayer W Müller-Felber W Röschinger O Bodamer N Fütterer B Rolinski P Freisinger R Horvath W Sperl, Neuropädiatrie in Klinik und Praxis 2008 7 4 122 128 http://www.neuropaediatrie-online.com/
62. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. E Sarzi A Bourdon D Chretien M Zarhrate J Corcos A Slama V Cormier-Daire P de Lonlay A Munnich A Rotig, Journal of Pediatrics 2007 150 5 531 534 10.1016/j.jpeds.2007.01.044 17452231 (Pubitemid 46602336)