Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

Brain

Volumn 131, Issue 11, 2008, Pages 2841-2850

  Götz, Alexandra ^a   Isohanni, Pirjo ^a,b   Pihko, Helena ^b   Paetau, Anders ^a   Herva, Riitta ^c   Saarenpää Heikkilä, Outi ^d   Valanne, Leena ^a   Marjavaara, Sanna ^a   Suomalainen, Anu ^a,e  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c OULU UNIVERSITY HOSPITAL   (Finland)

^d TAMPERE UNIVERSITY HOSPITAL   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Encephalomyopathy; Mitochondrial DNA depletion syndrome; mtDNA; Myopathy; Thymidine kinase 2

Indexed keywords

CREATINE KINASE; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; THYMIDINE KINASE; THYMIDINE KINASE 2; UNCLASSIFIED DRUG;

ARTICLE; AUTOPSY; BRAIN NECROSIS; CLINICAL ARTICLE; CONTROLLED STUDY; ENCEPHALOMYOPATHY; FATALITY; FEMALE; FINLAND; FOCAL EPILEPSY; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; MALE; MITOCHONDRIAL DNA DEPLETION SYNDROME; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SCANDINAVIA; SEIZURE;

EID: 55749115091     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awn236     Document Type: Article

References (31)

1. Akman HO, Dorado B, Lopez LC, Garcia-Cazorla A, Vila MR, Tanabe LM, et al. Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Hum Mol Genet 2008; 17: 2433-40.
2. Alberio S, Mineri R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion 2007; 7: 6-12.
3. Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007; 39: 776-80.
4. Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, et al. Mutation analysis in 16 patients with mtDNA depletion. Hum Mutat 2003; 21: 453-4.
5. Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, 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: 1081-6.
6. Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 2005; 128: 723-31.
7. Galbiati S, Bordoni A, Papadimitriou D, Toscano A, Rodolico C, Katsarou E, et al. New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol 2006; 34: 177-85.
8. Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lonnqvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007; 130: 3032-40.
9. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 2001; 25: 402-8.
10. Majander A, Rapola J, Sariola H, Suomalainen A, Pohjavuori M, Pihko H. Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: age dependence and postmortem analysis of enzyme activities. J Neurol Sci 1995; 134: 95-102.
11. Mancuso M, Salviati L, Sacconi S, Otaegui D, Camano P, Marina A, et al. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology 2002; 59: 1197-202.
12. McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurol 2002; 1: 343-51.
13. Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991; 48: 492-501.
14. Nguyen KV, Ostergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, et al. POLG mutations in Alpers syndrome. Neurology 2005; 65: 1493-5.
15. Norio R. Finnish disease heritage I: characteristics, causes, background. Hum Genet 2003a; 112: 441-56.
16. Norio R. The finnish disease heritage III: the individual diseases. Hum Genet 2003b; 112: 470-526.
17. Oskoui M, Davidzon G, Pascual J, Erazo R, Gurgel-Giannetti J, Krishna S, et al. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol 2006; 63: 1122-6.
18. Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, 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: 383-7.
19. Pietilainen KH, Naukkarinen J, Rissanen A, Saharinen J, Ellonen P, Keranen H, et al. Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity. PLoS Med 2008; 5: e51.
20. Pihko H, Louhimo T, Valanne L, Donner M. CNS in congenital muscular dystrophy without mental retardation. Neuropediatrics 1992; 23: 116-22.
21. 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: 342-4.
22. Sarzi E, Bourdon A, Chretien D, Zarhrate M, Corcos J, Slama A, et al. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr 2007a; 150: 531-4, 534 e1-6.
23. Sarzi E, Goffart S, Serre V, Chretien D, Slama A, Munnich A, et al. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 2007b; 62: 579-87.
24. Shibata DK, Arnheim N, Martin WJ. Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction. J Exp Med 1988; 167: 225-30.
25. Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006; 38: 570-5.
26. Suomalainen A, Syvanen AC. Quantitative analysis of human DNA sequences by PCR and solid-phase minisequencing. Mol Biotechnol 2000; 15: 123-31.
27. Tulinius M, Moslemi AR, Darin N, Holme E, Oldfors A. Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion. Neuromuscul Disord 2005; 15: 412-5.
28. Van Goethem G, Luoma P, Rantamaki M, Al Memar A, Kaakkola S, Hackman P, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004; 63: 1251-7.
29. Vila MR, Segovia-Silvestre T, Gamez J, Marina A, Naini AB, Meseguer A, et al. Reversion of mtDNA depletion in a patient with TK2 deficiency. Neurology 2003; 60: 1203-5.
30. Vila MR, Villarroya J, Garcia-Arumi E, Castellote A, Meseguer A, Hirano M, et al. Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency. J Neurol Sci 2008; 267: 137-41.
31. Vu TH, Tanji K, Valsamis H, DiMauro S, Bonilla E. Mitochondrial DNA depletion in a patient with long survival. Neurology 1998; 51: 1190-3.