Mitochondrial DNA mutations and depletion in pediatric medicine

Seminars in Fetal and Neonatal Medicine

Volumn 16, Issue 4, 2011, Pages 190-196

  Spinazzola, A ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Mitochondrial DNA depletion; Mitochondrial DNA mutation; Neonatal pathology

Indexed keywords

CELL NUCLEUS DNA; CYTOCHROME C OXIDASE; DEOXYGUANOSINE KINASE; DEOXYRIBONUCLEOSIDE TRIPHOSPHATE; DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; MPV17 PROTEIN; NUCLEOSIDE MONOPHOSPHATE KINASE; NUCLEOTIDE; POLG1 PROTEIN; RIBONUCLEOTIDE REDUCTASE; SUCCINYL COENZYME A SYNTHETASE; THYMIDINE KINASE; THYMIDINE PHOSPHORYLASE; UBIDECARENONE; UNCLASSIFIED DRUG; VALPROIC ACID;

ALLOGENEIC STEM CELL TRANSPLANTATION; ALPERS DISEASE; ANTICONVULSANT THERAPY; DNA REPLICATION; DNA STRUCTURE; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; GENE REARRANGEMENT; GENE SEGREGATION; GENETIC COUNSELING; HEMODIALYSIS; HETEROPLASMY; HUMAN; INFANT DISEASE; INTRACELLULAR SIGNALING; LEIGH DISEASE; LIPID DIET; LIVER DISEASE; LIVER DYSFUNCTION; LIVER TRANSPLANTATION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL GENOME; MITOCHONDRIAL RESPIRATION; MITOSIS; MNGIE SYNDROME; NEWBORN DISEASE; NONHUMAN; PEARSON SYNDROME; PHENOTYPE; POINT MUTATION; POLYPLOIDY; PRENATAL DIAGNOSIS; PROTEIN FUNCTION; QUALITY OF LIFE; REVIEW; SYMPTOMATOLOGY;

DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; HUMANS; INFANT, NEWBORN; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION;

EID: 79959892261     PISSN: 1744165X     EISSN: 18780946     Source Type: Journal    
DOI: 10.1016/j.siny.2011.04.011     Document Type: Review

References (85)

1. Anderson S., Bankier A.T., Barrell B.G., et al. Sequence and organization of the human mitochondrial genome. Nature 1981, 290:457-465.
2. Di Re M., Sembongi H., He J., et al. The accessory subunit of mitochondrial DNA polymerase gamma determines the DNA content of mitochondrial nucleoids in human cultured cells. Nucleic Acids Res 2009, 37:5701-5713.
3. Holt I.J., He J., Mao C.C., et al. Mammalian mitochondrial nucleoids: Organizing an independently minded genome. Mitochondrion 2007, 7:311-321.
4. Iborra F.J., Kimura H., Cook P.R. The functional organization of mitochondrial genomes in human cells. BMC Biol 2004, 2:9.
5. Wang Y., Bogenhagen D.F. Human mitochondrial DNA nucleoids are linked to protein folding machinery and metabolic enzymes at the mitochondrial inner membrane. J Biol Chem 2006, 281:25791-25802.
6. He J., Mao C.C., Reyes A., et al. The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization. J Cell Biol 2007, 176:141-146.
7. Ekstrand M.I., Falkenberg M., Rantanen, et al. Mitochondrial transcription factor A regulates mtDNA copy number in mammals. Hum Molec Genet 2004, 13:935-944.
8. Nishino I., Spinazzola A., Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999, 283:689-692.
9. Spinazzola A., Marti R., Nishino I., et al. Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 2002, 277:4128-4133.
10. Bourdon A., Minai L., Serre V., et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007, 39:776-780.
11. Contamine V., Picard M. Maintenance and integrity of the mitochondrial genome: a plethora of nuclear genes in the budding yeast. Microbiol Mol Biol Rev 2000, 64:281-315.
12. Korhonen J.A., Pham X.H., Pellegrini M., Falkenberg M. Reconstitution of a minimal mtDNA replisome in vitro. EMBO J 2004, 23:2423-2429.
13. Bowmaker M., Yang M.Y., Yasukawa T., et al. Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone. J Biol Chem 2003, 278:50961-50969.
14. Yasukawa T., Reyes A., Cluett T.J., et al. Replication of vertebrate mitochondrial DNA entails transient ribonucleotide incorporation throughout the lagging strand. EMBO J 2006, 25:5358-5371.
15. Holt I.J. Zen and the art of mitochondrial DNA maintenance. Trends Genet 2010, 26:103-109.
16. Giles R.E., Blanc H., Cann H.M., Wallace D.C. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 1980, 77:6715-6719.
17. Schwartz M., Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 2002, 347:576-580.
18. Filosto M., Mancuso M., Vives-Bauza C., et al. Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies. Ann Neurol 2003, 54:524-526.
19. Taylor R.W., McDonnell M.T., Blakely E.L., et al. Genotypes from patients indicate no paternal mitochondrial DNA contribution. Ann Neurol 2003, 54:521-524.
20. Holt I.J., Harding A.E., Morgan-Hughes J.A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988, 331:717-719.
21. Wallace D.C., Singh G., Lott M.T., et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988, 242:1427-1430.
22. Chinnery P.F., Johnson M.A., Wardell T.M., et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000, 48:188-193.
23. Skladal D., Halliday J., Thorburn D.R. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003, 126:1905-1912.
24. Schaefer A.M., McFarland R., Blakely E.L., et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008, 63:35-39.
25. Elliott H.R., Samuels D.C., Eden J.A., Relton C.L., Chinnery P.F. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 2008, 83:254-260.
26. Gibson K., Halliday J.L., Kirby D.M., Yaplito-Lee J., Thorburn D.R., Boneh A. Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Pediatrics 2008, 122:1003-1008.
27. Cormier V., Rotig A., Quartino A.R., et al. Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. J Pediatr 1990, 117:599-602.
28. Poulton J., Deadman M.E., Gardiner R.M. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet 1989, 1:236-240.
29. Martin Negrier M.L., Coquet M., Moretto B.T., et al. Partial triplication of mtDNA in maternally transmitted diabetes mellitus and deafness. Am J Hum Genet 1998, 63:1227-1232.
30. Chen X., Prosser R., Simonetti S., Sadlock J., Jagiello G., Schon E.A. Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 1995, 57:239-247.
31. Hayashi J., Ohta S., Kikuchi A., Takemitsu M., Goto Y., Nonaka I. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 1991, 88:10614-10618.
32. Poulton J., Holt I.J. Mitochondrial DNA: does more lead to less?. Nat Genet 1994, 8:313-315.
33. Dunbar D.R., Moonie P.A., Swingler R.J., Davidson D., Roberts R., Holt I.J. Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus. Hum Molec Genet 1993, 2:1619-1624.
34. Boles R.G., Roe T., Senadheera D., Mahnovski V., Wong L.J. Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. Eur J Pediatr 1998, 157:643-647.
35. Shanske S., Tang Y., Hirano M., et al. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. Am J Hum Genet 2002, 71:679-683.
36. Ozawa T., Yoneda M., Tanaka M., et al. Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy. Biochem Biophys Res Commun 1988, 154:1240-1247.
37. Spinazzola A., Zeviani M. Disorders of nuclear-mitochondrial intergenomic signaling. Gene 2005, 354:162-168.
38. Campbell G.R., Ziabreva I., Reeve A.K., et al. Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis. Ann Neurol 2011, 69:481-492.
39. Bender A., Krishnan K.J., Morris C.M., et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 2006, 38:515-517.
40. Kraytsberg Y., Kudryavtseva E., McKee A.C., Geula C., Kowall N.W., Khrapko K. Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat Genet 2006, 38:518-520.
41. Prezant T.R., Agapian J.V., Bohlman M.C., et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993, 4:289-294.
42. Sue C.M., Tanji K., Hadjigeorgiou G., et al. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology 1999, 52:1905-1908.
43. Taylor R.W., Giordano C., Davidson M.M., et al. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol 2003, 41:1786-1796.
44. Horvath R., Kemp J.P., Tuppen H.A., et al. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain 2009, 132:3165-3174.
45. Mimaki M., Hatakeyama H., Komaki H., et al. Reversible infantile respiratory chain deficiency: a clinical and molecular study. Ann Neurol 2010, 68:845-854.
46. Sacconi S., Salviati L., Nishigaki Y., et al. A functionally dominant mitochondrial DNA mutation. Hum Molec Genet 2008, 17:1814-1820.
47. Spinazzola A., Zeviani M. Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J Intern Med 2009, 265:174-192.
48. Morten K.J., Ashley N., Wijburg F., et al. Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion. Mitochondrion 2007, 7:386-395.
49. Fernandez-Vizarra E., Enriquez J.A., Perez-Martos A., Montoya J., Fernandez-Silva P. Tissue-specific differences in mitochondrial activity and biogenesis. Mitochondrion 2011, 11:207-213.
50. Saada A., Shaag A., Mandel H., Nevo Y., Eriksson S., Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001, 29:342-344.
51. Mancuso M., Salviati L., Sacconi S., et al. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology 2002, 59:1197-1202.
52. Oskoui M., Davidzon G., Pascual J., et al. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol 2006, 63:1122-1126.
53. Galbiati S., Bordoni A., Papadimitriou D., et al. New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol 2006, 34:177-185.
54. Carrozzo R., Dionisi-Vici C., Steuerwald U., et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007, 130:862-874.
55. Elpeleg O., Miller C., Hershkovitz E., et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 2005, 76:1081-1086.
56. Ostergaard E., Hansen F.J., Sorensen N., et al. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007, 130:853-861.
57. Ostergaard E., Christensen E., Kristensen E., et al. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet 2007, 81:383-387.
58. Kowluru A., Tannous M., Chen H.Q. Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase. Arch Biochem Biophys 2002, 398:160-169.
59. Bornstein B., Area E., Flanigan K.M., et al. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord 2008, 18:453-459.
60. Shaibani A., Shchelochkov O.A., Zhang S., et al. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol 2009, 66:1028-1032.
61. Tyynismaa H., Ylikallio E., Patel M., et al. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am J Hum Genet 2009, 85:290-295.
62. Ferrari G., Lamantea E., Donati A., et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 2005, 128:723-731.
63. Naviaux R.K., Nguyen K.V. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 2004, 55:706-712.
64. Milone M., Massie R. Polymerase gamma 1 mutations: clinical correlations. Neurologist 2010, 16:84-91.
65. Van Goethem G., Martin J.J., 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.
66. Tzoulis C., Engelsen B.A., Telstad W., et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006, 129:1685-1692.
67. Winterthun S., Ferrari G., He L., et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 2005, 64:1204-1208.
68. Hakonen A.H., Isohanni P., Paetau A., Herva R., Suomalainen A., Lonnqvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007, 130:3032-3040.
69. Sarzi E., Goffart S., Serre V., et al. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 2007, 62:579-587.
70. Nikali K., Suomalainen A., Saharinen J., et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Molec Genet 2005, 14:2981-2990.
71. Hakonen A.H., Goffart S., Marjavaara S., et al. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Molec Genet 2008, 17:3822-3835.
72. Spinazzola A., Viscomi C., Fernandez-Vizarra E., et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006, 38(5):570-575.
73. El-Hattab A.W., Li F.Y., Schmitt E., et al. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Molec Genet Metab 2010, 99:300-308.
74. Karadimas C.L., Vu T.H., Holve S.A., et al. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 2006, 79:544-548.
75. Dallabona C., Marsano R.M., Arzuffi P., et al. Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator. Hum Molec Genet 2010, 19:1098-1107.
76. Poulton J., Chiaratti M.R., Meirelles F.V., Kennedy S., Wells D., Holt I.J. Transmission of mitochondrial DNA diseases and ways to prevent them. PLoS Genet 2010, 6.
77. Monnot S., Gigarel N., Samuels D.C., et al. Segregation of mtDNA throughout human embryofetal development: m.3243A→G as a model system. Hum Mutat 2011, 32:116-125.
78. Blok R.B., Gook D.A., Thorburn D.R., Dahl H.H. Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes. Am J Hum Genet 1997, 60:1495-1501.
79. Feyereisen E., Romana S., Kerbrat V., et al. J Gynecol Obstet Biol Reprod (Paris) 2006, 35:356-372.
80. Spinazzola A., Invernizzi F., Carrara F., et al. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 2009, 32:143-158.
81. Parini R., Furlan F., Notarangelo L., et al. Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. J Hepatol 2009, 50:215-221.
82. Kaji S., Murayama K., Nagata I., et al. Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II. Molec Genet Metab 2009, 97:292-296.
83. Yavuz H., Ozel A., Christensen M., et al. Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis. Arch Neurol 2007, 64:435-438.
84. Lara M.C., Weiss B., Illa I., et al. Infusion of platelets transiently reduces nucleoside overload in MNGIE. Neurology 2006, 67:1461-1463.
85. Hirano M., Marti R., Casali C., et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 2006, 67:1458-1460.