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  • Expert Reviews in Molecular Medicine, Volume 11
  • 2009, e22

Molecular pathogenesis of Parkinson disease: insights from genetic studies

  • Thomas Gasser (a1)
  • DOI: http://dx.doi.org/10.1017/S1462399409001148
  • Published online: 01 July 2009
Abstract

Over the past few years, genetic findings have changed our views on the molecular pathogenesis of Parkinson disease (PD), as mutations in a growing number of genes have been found to cause monogenic forms of the disorder. These mutations cause neuronal dysfunction and neurodegeneration either by a toxic gain of function, as in the case of the dominant forms of monogenic PD caused by mutations in the genes for α-synuclein or LRRK2, or by a loss of an intrinsic protective function, as is likely for the recessive PD genes parkin (PRKN), PINK1 and DJ-1. Evidence is emerging that at least some of the pathways uncovered in the rare monogenic forms of PD may play a direct role in the aetiology of the common sporadic disorder and that variants of the respective genes contribute to the risk of developing the disease. These findings will allow the search for new treatment strategies that focus on the underlying molecular pathophysiology, rather than simply on ameliorating symptoms.

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This list contains references from the content that can be linked to their source. For a full set of references and notes please see the PDF or HTML where available.

1W. Poewe (2009) Treatments for Parkinson disease–past achievements and current clinical needs. Neurology 72, S65-73

3T. Gasser (2007) Update on the genetics of Parkinson's disease. Movement Disorders 22 (Suppl 17), S343-350

4M.J. Farrer (2007) Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia. Parkinsonism & Related Disorders 13, 89-92

5M.H. Polymeropoulos (1997) Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 276, 2045-2047

6R. Krüger (1998) Ala30Pro mutation in the gene encoding a-synuclein in Parkinson's disease. Nature Genetics 18, 106-108

7J.J. Zarranz (2004) The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Annals of Neurology 55, 164-173

8D. Berg (2005) Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Movement Disorders 20, 1191-1194

9L.I. Golbe (1996) Clinical genetic analysis of Parkinson's disease in the Contursi kindred. Annals of Neurology 40, 767-775

10J.E. Duda (2002) Concurrence of alpha-synuclein and tau brain pathology in the Contursi kindred. Acta Neuropathologica 104, 7-11

11M.G. Spillantini (1997) Alpha-synuclein in Lewy bodies. Nature 388, 839-840

12M. Goedert , M.G. Spillantini and S.W. Davies (1998) Filamentous nerve cell inclusions in neurodegenerative diseases. Current Opinion in Neurobiology 8, 619-632

13M.R. Cookson and M. van der Brug (2007) Cell systems and the toxic mechanism(s) of alpha-synuclein. Experimental Neurology 209, 5-11

14A.B. Singleton (2003) alpha-Synuclein locus triplication causes Parkinson's disease. Science 302, 841

15P. Ibanez (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 364, 1169-1171

16D.W. Miller (2004) Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication. Neurology 62, 1835-1838

17M.C. Chartier-Harlin (2004) Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364, 1167-1169

18P.H. Jensen (1998) Binding of alpha-synuclein to brain vesicles is abolished by familial Parkinson's disease mutation. Journal of Biological Chemistry 273, 26292-26294

19A. Abeliovich (2000) Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system. Neuron 25, 239-252

21E. Masliah (2000) Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders. Science 287, 1265-1269

23M.B. Feany and W.W. Bender (2000) A Drosophila model of Parkinson's disease. Nature 404, 394-398

24J.C. Greene (2003) Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutants. Proceedings of the National Academy of Sciences of the United States of America 100, 4078-4083

25P.K. Auluck (2002) Chaperone suppression of alpha-synuclein toxicity in a Drosophila model for Parkinson's disease. Science 295, 865-868

26M. Funayama (2002) A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Annals of Neurology 51, 296-301

27A. Zimprich (2004) Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathology. Neuron 44, 601-607

28C. Paisan-Ruiz (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44, 595-600

29A. Di Fonzo (2006) Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. European Journal of Human Genetics 14, 322-331

31W.C. Nichols (2005) Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 365, 410-412

32A. Di Fonzo (2005) A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet 365, 412-415

33J. Kachergus (2005) Identification of a novel LRRK2 mutation linked to autosomal dominant Parkinsonism: evidence of a common founder across European populations. American Journal of Human Genetics 76, 672-680

34W.P. Gilks (2005) A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 365, 415-416

35L.J. Ozelius (2006) LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. New England Journal of Medicine 354, 424-425

36S. Lesage (2006) LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. New England Journal of Medicine 354, 422-423

37S. Goldwurm (2007) Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease. Neurology 68, 1141-1143

38A. Di Fonzo (2006) A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics 7, 133-138

39E.K. Tan (2007) The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence. Human Genetics 120, 857-863

40M. Funayama (2007) Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population. Neuroreport 18, 273-275

41C.J. Gloeckner (2006) The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity. Human Molecular Genetics 15, 223-232

42E. Greggio (2007) Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1. Journal of Neurochemistry 102, 93-102

43I.F. Mata (2005) Lrrk2 pathogenic substitutions in Parkinson's disease. Neurogenetics 6, 171-177

44J.M. Bras (2005) G2019s dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Movement Disorders 20, 1653-1655

45D.G. Healy (2008) Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurology 7, 583-590

46J.C. Dachsel (2006) Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2. Neuroscience Letters 410, 80-84

47L. Bosgraaf and P.J. Van Haastert (2003) Roc, a Ras/GTPase domain in complex proteins. Biochimica et Biophysica Acta 1643, 5-10

48W.W. Smith (2005) Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration. Proceedings of the National Academy of Sciences of the United States of America 102, 18676-18681

49A.B. West (2007) Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity. Human Molecular Genetics 16, 223-232

50E. Greggio (2006) Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiology of Disease 23, 329-341

51O.A. Ross (2006) Lrrk2 and Lewy body disease. Annals of Neurology 59, 388-393

52J.C. Dachsel (2007) Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions. Acta Neuropathologica 113, 601-606

53J. Aharon-Peretz , H. Rosenbaum and R. Gershoni-Baruch (2004) Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. New England Journal of Medicine 351, 1972-1977

54I.F. Mata (2008) Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Archives of Neurology 65, 379-382

55E.V. De Marco (2008) Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Movement Disorders 23, 460-463

56S.G. Ziegler (2007) Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Molecular Genetics and Metabolism 91, 195-200

57O. Goker-Alpan (2006) Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology 67, 908-910

58A. Ishikawa and S. Tsuji (1996) Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology 47, 160-166

59H. Ichinose (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genetics 8, 236-242

62N. Hattori (1998) Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Annals of Neurology 44, 935-941

63C.B. Lücking (1998) Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. Lancet 352, 1355-1356

64N. Abbas (1999) A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. Human Molecular Genetics 8, 567-574

65C.B. Lücking (2000) Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene. New England Journal of Medicine 342, 1560-1567

66K. Hedrich (2004) Distribution, type, and origin of Parkin mutations: review and case studies. Movement Disorders 19, 1146-1157

67C.B. Lücking (2001) Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations. Neurology 57, 924-927

68M. Periquet (2003) Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 126, 1271-1278

69M. Periquet (2001) Origin of the Mutations in the parkin Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects. American Journal of Human Genetics 68, 617-626

70C. Klein (2000) Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Annals of Neurology 48, 65-71

71E.M. Valente (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304, 1158-1160

72E.M. Valente (2004) PINK1 mutations are associated with sporadic early-onset parkinsonism. Annals of Neurology 56, 336-341

73Y. Hatano (2004) Novel PINK1 mutations in early-onset parkinsonism. Annals of Neurology 56, 424-427

74V. Bonifati (2005) Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 65, 87-95

75K. Hedrich (2006) Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? Archives of Neurology 63, 833-838

76J. Prestel (2008) Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. Journal of Neurology 255, 643-648

77R. Marongiu (2007) Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. Human Mutation 28, 98

78A. Albanese (2005) The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology 64 1958-1960

79L. Ephraty (2007) Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations. Movement Disorders 22, 566-569

80C.M. van Duijn (2001) Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. American Journal of Human Genetics 69, 629-634

81V. Bonifati (2002) Mutations in the DJ-1 gene associated with autosomal recessive early-onset Parkinsonism. Science 299, 256-259

82P.M. Abou-Sleiman (2003) The role of pathogenic DJ-1 mutations in Parkinson's disease. Annals of Neurology 54, 283-286

83R. Hering (2004) Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Human Mutation 24, 321-329

84G. Annesi (2005) DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. Annals of Neurology 58, 803-807

85H. Takahashi (1994) Familial juvenile parkinsonism: clinical and pathologic study in a family. Neurology 44, 437-441

86B.P. van De Warrenburg (2001) Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 56, 555-557

87H. Mori (1998) Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 51, 890-892

88M. Farrer (2001) Lewy bodies and parkinsonism in families with parkin mutations. Annals of Neurology 50, 293-300

89P.P. Pramstaller (2005) Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Annals of Neurology 58, 411-422

91K.K. Chung (2001) Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. Nature Medicine 7, 1144-1150

92Y. Imai (2001) An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin. Cell 105, 891-902

93Y. Zhang (2000) Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1. Proceedings of the National Academy of Sciences of the United States of America 97, 13354-13359

94M. Joch (2007) Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels. Molecular Biology of the Cell 18, 3105-3118

95A.H. Schapira (2008) Mitochondria in the aetiology and pathogenesis of Parkinson's disease. Lancet Neurology 7, 97-109

96Y. Kuroda (2006) Parkin enhances mitochondrial biogenesis in proliferating cells. Human Molecular Genetics 15, 883-895

97J.J. Palacino (2004) Mitochondrial dysfunction and oxidative damage in parkin-deficient mice. Journal of Biological Chemistry 279, 18614-18622

98C.C. Stichel (2007) Mono- and double-mutant mouse models of Parkinson's disease display severe mitochondrial damage. Human Molecular Genetics 16, 2377-2393

99Y. Yang (2006) Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin. Proceedings of the National Academy of Sciences of the United States of America 103, 10793-10798

100H. Mortiboys (2008) Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Annals of Neurology 64, 555-565

101H.H. Hoepken (2007) Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Neurobiology of Disease 25, 401-411

102A.C. Poole (2008) The PINK1/Parkin pathway regulates mitochondrial morphology. Proceedings of the National Academy of Sciences of the United States of America 105, 1638-1643

103N. Lev (2006) Role of DJ-1 in Parkinson's disease. Journal of Molecular Neuroscience 29, 215-225

104R.M. Canet-Aviles (2004) The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proceedings of the National Academy of Sciences of the United States of America 101, 9103-9108

105H. Xiong (2009) Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. Journal of Clinical Investigation 119, 650-660

106A.S. Najim al Din (1994) Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurologica Scandinavica 89, 347-352

107A. Ramirez (2006) Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nature Genetics 38, 1184-1191

108C. Vilarino-Guell (2009) ATP13A2 variability in Parkinson disease. Human Mutation 30, 406-410

109N.V. Morgan (2006) PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nature Genetics 38, 752-754

110C. Paisan-Ruiz (2009) Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Annals of Neurology 65, 19-23

111A. Di Fonzo (2009) FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 72, 240-245

112T. Gasser (1998) A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nature Genetics 18, 262-265

113A.L. DeStefano (2002) PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. American Journal of Human Genetics 70, 1089-1095

114N. Pankratz (2004) Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel loci. Neurology 62, 1616-1618

115S. Karamohamed (2003) A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology 61, 1557-1561

116M. Sharma (2006) The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. Journal of Medical Genetics 43, 557-562

117E. Leroy (1998) The ubiquitin pathway in Parkinson's disease. Nature 395, 451-452

118D.M. Maraganore (2004) UCHL1 is a Parkinson's disease susceptibility gene. Annals of Neurology 55, 512-521

119A.A. Hicks (2002) A susceptibility gene for late-onset idiopathic Parkinson's disease. Annals of Neurology 52, 549-555

120N. Pankratz (2003) Significant linkage of Parkinson disease to chromosome 2q36-37. American Journal of Human Genetics 72, 1053-1057

121J. Prestel (2005) PARK11 is not linked with Parkinson's disease in European families. European Journal of Human Genetics 13, 193-197

122C. Lautier (2008) Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. American Journal of Human Genetics 82, 822-833

123J. Bras (2008) Lack of replication of association between GIGYF2 variants and Parkinson disease. Human Molecular Genetics 18, 341-346

124W.C. Nichols (2009) Variation in GIGYF2 is not associated with Parkinson disease. Neurology 72, 1886-92

126K.M. Strauss (2005) Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Human Molecular Genetics 14, 2099-2111

127D.M. Maraganore (2006) Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA: the Journal of the American Medical Association 296, 661-670

128J.C. Mueller (2005) Multiple regions of alpha-synuclein are associated with Parkinson's disease. Annals of Neurology 57, 535-541

129I. Mizuta (2006) Multiple candidate gene analysis identifies {alpha}-synuclein as a susceptibility gene for sporadic Parkinson's disease. Human Molecular Genetics 15, 1151-1158

130A. Goris (2007) Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease. Annals of Neurology 62, 145-153

131S. Winkler (2007) alpha-Synuclein and Parkinson disease susceptibility. Neurology 69, 1745-1750

132O.A. Ross (2007) Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease. Mechanisms of Ageing and Development 128, 378-382

133R. Myhre (2008) Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population. Acta Neurologica Scandinavica 118, 320-327

134N. Pankratz (2009) Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Human Genetics 124, 593-605

135J. Fuchs (2008) Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain. FASEB Journal 22, 1327-1334

136D.G. Healy (2004) Tau gene and Parkinson's disease: a case-control study and meta-analysis. Journal of Neurology Neurosurgery and Psychiatry 75, 962-965

137E.R. Martin (2001) Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA: the Journal of the American Medical Association 286, 2245-2250

138L. Skipper (2004) Linkage disequilibrium and association of MAPT H1 in Parkinson disease. American Journal of Human Genetics 75, 669-677

139R. de Silva (2002) The tau locus is not significantly associated with pathologically confirmed sporadic Parkinson's disease. Neuroscience Letters 330, 201-203

140G.K. Wenning and K.A. Jellinger (2005) The role of alpha-synuclein and tau in neurodegenerative movement disorders. Current Opinion in Neurology 18, 357-362

141K. Arima (1999) Cellular co-localization of phosphorylated tau- and NACP/alpha- synuclein-epitopes in lewy bodies in sporadic Parkinson's disease and in dementia with lewy bodies. Brain Research 843, 53-61

142W.R. Galpern and A.E. Lang (2006) Interface between tauopathies and synucleinopathies: a tale of two proteins. Annals of Neurology 59, 449-458

143N.L. Khan (2002) Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study. Brain 125, 2248-2256

144R. Hilker (2001) Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Annals of Neurology 49, 367-376

145P.P. Pramstaller (2002) Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene. Movement Disorders 17, 424-426

146S.J. Lincoln (2003) Parkin variants in North American Parkinson's disease: cases and controls. Movement Disorders 18, 1306-1311

147D.M. Kay (2007) Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Annals of Neurology 61, 47-54

148O. Chiba-Falek (2005) Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene. American Journal of Human Genetics 76, 478-492

149S. Higashi (2007) Localization of Parkinson's disease-associated LRRK2 in normal and pathological human brain. Brain Research 1155, 208-219

A. Gupta , V.L. Dawson and T.M. Dawson (2008) What causes cell death in Parkinson's disease? Annals of Neurology 64 Suppl 2, S3-15

J. Hardy (2005) Expression of normal sequence pathogenic proteins for neurodegenerative disease contributes to disease risk: ‘permissive templating’ as a general mechanism underlying neurodegeneration. Biochemical Society Transactions 33, 578-581

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