Mutational screening of the mortalin gene (HSPA9) in Parkinson's disease

Journal of Neural Transmission

Volumn 116, Issue 10, 2009, Pages 1289-1293

  De Mena, Lorena ^a   Coto, Eliecer ^a   Sánchez Ferrero, Elena ^a   Ribacoba, René ^b   Guisasola, Luis M ^b   Salvador, Carlos ^b   Blázquez, Marta ^b   Alvarez, Victoria ^a  

^a HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^b Hospitales Central Asturias and Alvarez Buylla Mieres ^*  (Spain)

Author keywords

Genetic risk; Mortalin; Mutations; Parkinson's disease

Indexed keywords

HEAT SHOCK PROTEIN 70; MORTALIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PARKINSON DISEASE; PRIORITY JOURNAL; RNA SPLICING; SUBSTANTIA NIGRA;

AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; HSP70 HEAT-SHOCK PROTEINS; HUMANS; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; PARKINSON DISEASE; POLYMORPHISM, GENETIC; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 70349238601     PISSN: 03009564     EISSN: 14351463     Source Type: Journal    
DOI: 10.1007/s00702-009-0273-2     Document Type: Article

References (22)

1. J Autere JS Moilanen S Finnila H Soininen A Mannermaa P Hartikainen M Hallikainen K Majamaa 2004 Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia Hum Genet 115 29 35
2. M Brunner HC Schneider R Lill W Neupert 1995 Dissection of protein translocation across the mitochondrial outer and inner membranes Cold Spring Harb Symp Quant Biol 60 619 627
3. RM Canet-Aviles MA Wilson DW Miller R Ahmad C McLendon S Bandyopadhyay MJ Baptista D Ringe GA Petsko MR Cookson 2004 The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization Proc Natl Acad Sci USA 101 9103 9108
4. JC Dachsel IF Mata OA Ross JP Taylor SJ Lincoln KM Hinkle C Huerta R Ribacoba M Blazquez V Alvarez, et al. 2006 Digenic Parkinsonism: investigation of the synergistic effects of PRKN and LRRK2 Neurosci Lett 410 80 84
5. CC Deocaris SC Kaul R Wadhwa 2006 On the brotherhood of the mitochondrial chaperones mortalin and heat shock protein 60 Cell Stress Chaperones 11 116 128
6. MW Dodson M Guo 2007 Pink1, Parkin, DJ-1 and mitochondrial dysfunction in Parkinson's disease Curr Opin Neurobiol 17 331 337
7. MI Ekstrand M Falkenberg A Rantanen CB Park M Gaspari K Hultenby P Rustin CM Gustafsson NG Larsson 2004 Mitochondrial transcription factor A regulates mtDNA copy number in mammals Hum Mol Genet 13 935 944
8. MI Ekstrand M Terzioglu D Galter S Zhu C Hofstetter E Lindqvist S Thams A Bergstrand FS Hansson A Trifunovic, et al. 2007 Progressive Parkinsonism in mice with respiratory-chain-deficient dopamine neurons Proc Natl Acad Sci USA 104 1325 1330
9. M Falkenberg M Gaspari A Rantanen A Trifunovic NG Larsson CM Gustafsson 2002 Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA Nat Genet 31 3 289 294
10. M Gaspari NG Larsson CM Gustafsson 2004 The transcription machinery in mammalian mitochondria Biochim Biophys Acta 1659 148 152
11. JT Greenamyre G MacKenzie TI Peng SE Stephans 1999 Mitochondrial dysfunction in Parkinson's disease Biochem Soc Symp 66 85 97
12. M Gu JM Cooper JW Taanman AH Schapira 1998 Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease Ann Neurol 44 177 186
13. C Huerta MG Castro E Coto M Blázquez R Ribacoba LM Guisasola C Salvador C Martínez CH Lahoz V Alvarez 2005 Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population J Neurol Sci 236 49 54
14. J Jin C Hulette Y Wang T Zhang C Pan R Wadhwa J Zhang 2006 Proteomic identification of a stress protein, mortalin/mthsp70/GRP75: relevance to Parkinson disease Mol Cell Proteomics 5 1193 1204
15. J Jin GJ Li J Davis D Zhu Y Wang C Pan J Zhang 2007 Identification of novel proteins associated with both alpha-synuclein and DJ-1 Mol Cell Proteomics 6 845 859
16. IF Mata OA Ross J Kachergus C Huerta R Ribacoba G Moris M Blazquez LM Guisasola C Salvador C Martinez, et al. 2006 LRRK2 mutations are a common cause of Parkinson's disease in Spain Eur J Neurol 13 391 394
17. WD Parker Jr SJ Boyson JK Parks 1989 Abnormalities of the electron transport chain in idiopathic Parkinson's disease Ann Neurol 26 719 723
18. AH Schapira 1998 Human complex I defects in neurodegenerative diseases Biochim Biophys Acta 1364 261 270
19. HC Schneider J Berthold MF Bauer K Dietmeier B Guiard M Brunner W Neupert 1994 Mitochondrial Hsp70/MIM44 complex facilitates protein import Nature 371 768 774 (Pubitemid 24333863)
20. M Shi J Jin Y Wang RP Beyer E Kitsou RL Albin M Gearing C Pan J Zhang 2008 Mortalin: a protein associated with progression of Parkinson disease? J Neuropathol Exp Neurol 67 117 124
21. DK Simon R Mayeux K Marder NW Kowall MF Beal DR Johns 2000 Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease Neurology 54 703 709
22. JM van der Walt KK Nicodemus ER Martin WK Scott MA Nance RL Watts JP Hubble JL Haines WC Koller K Lyons, et al. 2003 Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease Am J Hum Genet 72 711 804