Mitochondrial genome instability and associated diseases;Instabilité du génome mitochondrial et pathologies associées

Medecine/Sciences

Volumn 26, Issue 2, 2010, Pages 171-176

  Sarzi, Emmanuelle ^a   Rötig, Agnès ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77749307313     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/2010262171     Document Type: Review

References (29)

1. Lamantea E, Tiranti V, Bordoni A, et al. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002;52:211-9.
2. Luoma P, Melberg A, Rinne JO, et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 2004;364:875-82.
3. Wanrooij S, Goffart S, Pohjoismäki JL, et al. Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes. Nucleic Acids Res 2007;35:3238-51.
4. Krishnan KJ, Reeve AK, Samuels DC, et al. What causes mitochondrial DNA deletions in human cells? Nat Genet 2008;40:275-9.
5. Longley MJ, Clark S, Yu Wai Man C, et al. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006;78:1026-34.
6. Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 2007;64:998-1000.
7. Hudson G, Deschauer M, Busse K, et al. Sensory ataxic neuropathy due to a novel C1000rf2 mutation with probable germline mosaicism. Neurology 2005;64:371-3.
8. Spelbrink JN, Li FY, Tiranti V, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001;28:223-31.
9. Korhonen JA, Pande V, Holmlund T, et al. Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia. J Mol Biol 2008;377:691-705.
10. Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000;289:782-5.
11. Bauer MK, Schubert A, Rocks O, Grimm S. Adenine nucleotide translocase-1, a component of the permeability transition pore, can dominantly induce apoptosis. J Cell Biol 1999;147:1493-502.
12. Amati-Bonneau P, Valentino ML, Reynier P, et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2008;131:338-51.
13. Lenaers G, Reynier P, Elachouri G, et al. OPA1 functions in mitochondria and dysfunctions in optic nerve. Int J Biochem Cell Biol 2009;41:1866-74.
14. Hudson G, Amati-Bonneau P, Blakely EL, et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2008;131:329-37.
15. Giordano C, Sebastiani M, Plazzi G, et al. Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. Gastroenterology 2006;130:893-901.
16. 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;85:290-5.
17. Bourdon, A, Rotig A. p53R2: DNA repair or mitochondrial DNA synthesis? Med Sci (Paris) 2007;23:803-5.
18. Naviaux RK, Nguyen KV. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 2004;55:706-12.
19. Hakonen AH, 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 Mol Genet 2008;17:3822-35.
20. Sarzi E, Goffart S, Serre V, et al. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 2007;62:579-87.
21. Hakonen AH, Isohanni P, Paetau A, et al. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007;130:3032-40.
22. Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-41.
23. Saada A, Shaag A, Mandel H, et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-4.
24. Ostergaard E, Hansen FJ, Sorensen N, et al. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007;130:853-61.
25. Kowluru A, Tannous M, Chen HQ. 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;398:160-9.
26. 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;81:383-7.
27. 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;39:776-80.
28. Shaibani A, Shchelochkov OA, Zhang S, et al. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol 2009;66:1028-32.
29. Spinazzola A, Viscomi C, Femandez-Vizarra E, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-5.