POLG1-related and other "mitochondrial parkinsonisms": An overview

Journal of Molecular Neuroscience

Volumn 44, Issue 1, 2011, Pages 17-24

  Orsucci, Daniele ^a   Caldarazzo Ienco, Elena ^a   Mancuso, Michelangelo ^a   Siciliano, Gabriele ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

Haplogroups; Mitochondria; Mitochondrial diseases; mtDNA; Parkinson's disease; POLG

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA;

ARTICLE; DIAGNOSTIC PROCEDURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; GENE REARRANGEMENT; HUMAN; MITOCHONDRION; PARKINSON DISEASE; PARKINSONISM;

DIAGNOSIS, DIFFERENTIAL; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MITOCHONDRIAL DISEASES; NUCLEOTIDYLTRANSFERASES; PARKINSONIAN DISORDERS;

EID: 79955894792     PISSN: 08958696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12031-010-9488-9     Document Type: Article

References (67)

1. Anvret A, Westerlund M, Sydow O et al (2010) Variations of the CAG trinucleotide repeat in DNA polymerase gamma (POLG1) is associated with Parkinson's disease in Sweden. Neurosci Lett 485:117-120
2. Autere J, Moilanen JS, Finnila S et al (2004) Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia. Hum Genet 115:29-35 (Pubitemid 38787215)
3. Baloh RH, Salavaggione E, Milbrandt J, Pestronk A (2007) Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 64:998-1000 (Pubitemid 47048000)
4. Batabyal D, McKenzie JL, Johnson KA (2010) Role of histidine-932 of the human mitochondrial DNA polymerase in nucleotide discrimination and inherited disease. J Biol Chem 285:34191-34201
5. Betts-Henderson J, Jaros E, Krishnan KJ et al (2009) Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions. Neuropathol Appl Neurobiol 35:120-124
6. Blok MJ, van den Bosch BJ, Jongen E et al (2009) The unfolding clinical spectrum of POLG mutations. J Med Genet 46:776-785
7. Bueler H (2009) Impaired mitochondrial dynamics and function in the pathogenesis of Parkinson's disease. Exp Neurol 218:235-246
8. Chan SS, Copeland WC (2009) DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations. Biochim Biophys Acta 1787:312-319
9. Chan SS, Longley MJ, Copeland WC (2005) The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem 280:31341-31346 (Pubitemid 41291873)
10. Copeland WC (2010) The mitochondrial DNA polymerase in health and disease. Subcell Biochem 50:211-222
11. Craig K., Ferrari G., Tiangyou W., et al. (2007) The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe. Brain 130, E69; author reply E70.
12. Dauer W, Przedborski S (2003) Parkinson's disease: mechanisms and models. Neuron 39:889-909 (Pubitemid 37130207)
13. Davidzon G, Greene P, Mancuso M et al (2006) Early-onset familial parkinsonism due to POLG mutations. Ann Neurol 59:859-862 (Pubitemid 43673164)
14. De Coo IF, Renier WO, Ruitenbeek W et al (1999) A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann Neurol 45:130-133 (Pubitemid 29036443)
15. DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348:2656-2668 (Pubitemid 36741594)
16. Echaniz-Laguna A, Chassagne M, de Seze J et al (2010) POLG1 variations presenting as multiple sclerosis. Arch Neurol 67:1140-1143
17. Eerola J, Luoma PT, Peuralinna T et al (2010) POLG1 polyglutamine tract variants associated with Parkinson's disease. Neurosci Lett 477:1-5
18. Filosto M, Mancuso M, Nishigaki Y et al (2003) Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch Neurol 60:1279-1284 (Pubitemid 37099636)
19. Fukae J, Mizuno Y, Hattori N (2007) Mitochondrial dysfunction in Parkinson's disease. Mitochondrion 7:58-62 (Pubitemid 46351976)
20. Galassi G, Lamantea E, Invernizzi F et al (2008) Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy. Neuromuscul Disord 18:465-470
21. Ghezzi D, Marelli C, Achilli A et al (2005) Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet 13:748-752 (Pubitemid 40846847)
22. Gonzalez-Vioque E, Blazquez A, Fernandez-Moreira D et al (2006) Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. Arch Neurol 63:107-111 (Pubitemid 43063868)
23. Graziewicz MA, Bienstock RJ, Copeland WC (2007) The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7, 8-dihydro-8-oxo-2′- deoxyguanosine. Hum Mol Genet 16:2729-2739 (Pubitemid 350018515)
24. Gu M, Cooper JM, Taanman JW, Schapira AH (1998) Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann Neurol 44:177-186 (Pubitemid 28374105)
25. Hakonen AH, Heiskanen S, Juvonen V et al (2005) Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77:430-441 (Pubitemid 41192649)
26. Harris MO, Walsh LE, Hattab EM, Golomb MR (2010) Is it ADEM, POLG, or both? Arch Neurol 67:493-496
27. Horvath R, Hudson G, Ferrari G et al (2006) Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129:1674-1684 (Pubitemid 43999402)
28. Horvath R, Kley RA, Lochmuller H, Vorgerd M (2007) Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology 68:56-58 (Pubitemid 46058553)
29. Hudson G. and Chinnery P.F. (2006) Mitochondrial DNA polymerase-gamma and human disease. Hum Mol Genet 15 Spec No 2, R244-252.
30. Hudson G, Schaefer AM, Taylor RW et al (2007) Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Arch Neurol 64:553-557 (Pubitemid 46588345)
31. Huerta C, Castro MG, Coto E et al (2005) Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. J Neurol Sci 236:49-54 (Pubitemid 41218692)
32. Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M (2008) Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. Neuromuscul Disord 18:460-464
33. Latsoudis H, Spanaki C, Chlouverakis G, Plaitakis A (2008) Mitochondrial DNA polymorphisms and haplogroups in Parkinson's disease and control individuals with a similar genetic background. J Hum Genet 53:349-356
34. Luoma P, Melberg A, Rinne JO et al (2004) Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 364:875-882 (Pubitemid 39221065)
35. Luoma PT, Luo N, Loscher WN et al (2005) Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. Hum Mol Genet 14:1907-1920 (Pubitemid 41418028)
36. Luoma PT, Eerola J, Ahola S et al (2007) Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. Neurology 69:1152-1159 (Pubitemid 47517561)
37. Mancuso M, Filosto M, Oh SJ, DiMauro S (2004) A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. Arch Neurol 61:1777-1779 (Pubitemid 39463436)
38. Mancuso M, Filosto M, Orsucci D, Siciliano G (2008a) Mitochondrial DNA sequence variation and neurodegeneration. Hum Genomics 3:71-78
39. Mancuso M, Nesti C, Petrozzi L et al (2008b) The mtDNA A8344G "MERRF" mutation is not a common cause of sporadic Parkinson disease in Italian population. Parkinsonism Relat Disord 14:381-382
40. Mancuso M, Orsucci D, Gori S, Ceravolo R, Siciliano G (2008c) Mitochondrial DNA single deletion in a patient with postural tremor. Mov Disord 23:2098-2100
41. Mancuso M, Orsucci D, Coppede F, Nesti C, Choub A, Siciliano G (2009) Diagnostic approach to mitochondrial disorders: the need for a reliable biomarker. Curr Mol Med 9:1095-1107
42. Milone M, Massie R (2010) Polymerase gamma 1 mutations: clinical correlations. Neurologist 16:84-91
43. Nikoskelainen EK, Marttila RJ, Huoponen K et al (1995) Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 59:160-164
44. Nishioka K, Vilarino-Guell C, Cobb SA et al (2010) Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson disease. Parkinsonism Relat Disord 16:686-687
45. Orsucci D, Filosto M, Siciliano G, Mancuso M (2009) Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction. Nutr Rev 67:427-438
46. Pagnamenta AT, Taanman JW, Wilson CJ et al (2006) Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Hum Reprod 21:2467-2473 (Pubitemid 44542135)
47. Parker WD Jr, Boyson SJ, Parks JK (1989) Abnormalities of the electron transport chain in idiopathic Parkinson's disease. Ann Neurol 26:719-723 (Pubitemid 20011004)
48. Pyle A, Foltynie T, Tiangyou W et al (2005) Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. Ann Neurol 57:564-567 (Pubitemid 40471169)
49. Remes AM, Hinttala R, Karppa M et al (2008) Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene. Parkinsonism Relat Disord 14:652-654
50. Sarzi E, Brown MD, Lebon S et al (2007) A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A 143:33-41 (Pubitemid 46051469)
51. Schaefer AM, McFarland R, Blakely EL et al (2008) Prevalence of mitochondrial DNA disease in adults. Ann Neurol 63:35-39
52. Schicks Md J, Synofzik Md M, Schulte C, Schols Md L (2010) POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. Mov Disord 25:2678-2682
53. Siciliano G, Mancuso M, Ceravolo R, Lombardi V, Iudice A, Bonuccelli U (2001) Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports. J Neurol Neurosurg Psychiatry 71:685-687 (Pubitemid 33010588)
54. Simon DK, Friedman J, Breakefield XO et al (2003) A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia. Neurogenetics 4:199-205 (Pubitemid 37122221)
55. Simon DK, Pulst SM, Sutton JP, Browne SE, Beal MF, Johns DR (1999) Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation. Neurology 53:1787-1793 (Pubitemid 29530356)
56. Simon DK, Pankratz N, Kissell DK et al (2010) Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease. BMC Med Genet 11:53
57. Solano A, Roig M, Vives-Bauza C et al (2003) Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene. Ann Neurol 54:527-530 (Pubitemid 37176551)
58. Stewart JD, Hudson G, Yu-Wai-Man P et al (2008) OPA1 in multiple mitochondrial DNA deletion disorders. Neurology 71:1829-1831
59. Synofzik M, Asmus F, Reimold M, Schols L, Berg D (2010) Sustained dopaminergic response of parkinsonism and depression in POLG-associated parkinsonism. Mov Disord 25:243-245
60. Thyagarajan D, Bressman S, Bruno C et al (2000) A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. Ann Neurol 48:730-736
61. Trifunovic A, Wredenberg A, Falkenberg M et al (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429:417-423 (Pubitemid 38715133)
62. Tzoulis C, Engelsen BA, Telstad W et al (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129:1685-1692 (Pubitemid 43999403)
63. van der Walt JM, Nicodemus KK, Martin ER et al (2003) Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 72:804-811 (Pubitemid 36403301)
64. Wang K, Takahashi Y, Gao ZL et al (2009) Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. Neurogenetics 10:337-345
65. Wilcox RA, Churchyard A, Dahl HH, Hutchison WM, Kirby DM, Thyagarajan D (2007) Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions. Mov Disord 22:1020-1023 (Pubitemid 46999302)
66. Winterthun S, Ferrari G, He L et al (2005) Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64:1204-1208
67. Wong LJ, Naviaux RK, Brunetti-Pierri N et al (2008) Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 29:E150-E172