Genetic analysis of DJ-1 in a cohort Parkinson's disease patients of different ethnicity

Neuroscience Letters

Volumn 367, Issue 1, 2004, Pages 109-112

  Tan, Eng King ^a,b   Tan, Chris ^a   Zhao, Yi ^a   Yew, Kenneth ^a   Shen, Hui ^a   Chandran, V R ^a   Teoh, Mei Lin ^a   Yih, Yuan ^a   Pavanni, Ratnagopal ^b   Wong, Meng Cheong ^b  

^a SINGAPORE GENERAL HOSPITAL   (Singapore)

^b NATIONAL NEUROSCIENCE INSTITUTE   (Singapore)

Author keywords

DJ 1; Mutation; Parkinson's disease

Indexed keywords

DJ 1 PROTEIN; PARKIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ASIAN; CONTROLLED STUDY; ETHNOLOGY; EXON; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PARKINSON DISEASE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; COHORT STUDIES; DEMOGRAPHY; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FEMALE; GENOTYPE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION; ONCOGENE PROTEINS; PARKINSON DISEASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 4043171279     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2004.05.090     Document Type: Article

References (18)

1. Abou-Sleiman P.M., Healy D.G., Quinn N., Lees A.J., Wood N.W. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann. Neurol. 54(3):2003;283-286
2. Bandopadhyay R., Kingsbury A.E., Cookson M.R., Reid A.R., Evans I.M., Hope A.D., Pittman A.M., Lashley T., Canet-Aviles R., Miller D.W., McLendon C., Strand C., Leonard A.J., Abou-Sleiman P.M., Healy D.G., Ariga H., Wood N.W., De Silva R., Revesz T., Hardy J.A., Lees A.J. The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. Brain. 127:2004;420-430
3. Bonifati V., Rizzu P., Van Barren M., Schaap O., Breedveld G.J., Krieger E., Dekker M.C., Squitieri F., Ibanez P., Joosse M., van Dongen J.W., Vanacore N., van Swieten J.C., Brice A., Meco G., van Duijn C.M., Oostra B.A., Heutink P. The mutations in the DJ-1 gene associated with autosomal recessive early onset parkinsonism. Science. 299:2003;256-299
4. Eerola J., Hernandez D., Launes J., Hellstrom O., Hague S., Gulick C., Johnson J., Peuralinna T., Hardy J., Tienari P.J., Singleton A.B. Assessment of a DJ-1 (PARK7) polymorphism in Finnish P.D. Neurology. 61(7):2003;1000-1002
5. Hague S., Rogaeva E., Hernandez D., Gulick C., Singleton A., Hanson M., Johnson J., Weiser R., Gallardo M., Ravina B., Gwinn-Hardy K., Crawley A., St George-Hyslop P.H., Lang A.E., Heutink P., Bonifati V., Hardy J., Singleton A. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann. Neurol. 54(2):2003;271-274
6. Healy D.G., Abou-Sleiman P.M., Valente E.M., Gilks W.P., Bhatia K., Quinn N., Lees A.J., Wood N.W. DJ-1 mutations in Parkinson's disease. J. Neurol. Neurosurg. Psychiatry. 75(1):2004;144-145
7. Hedrich K., Schafer N., Hering R., Hagenah J., Lanthaler A.J., Schwinger E., Kramer P.L., Ozelius L.J., Bressman S.B., Abbruzzese G., Martinelli P., Kostic V., Pramstaller P.P., Vieregge P., Riess O., Klein C. The R98Q variation in DJ-1 represents a rare polymorphism. Ann. Neurol. 55(1):2004;145. (letter)
8. Hughes A.J., Daniel S.E., Kilford L., Lees A.J. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatry. 55(3):1992;181-184
9. Ibanez P., De Michele G., Bonifati V., Lohmann E., Thobois S., Pollak P., Agid Y., Heutink P., Durr A., Brice A. Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. Neurology. 61(10):2003;1429-1431
10. Kitada T., Asakawa S., Hattori N., Matsumine H., Yamamura Y., Minoshima S., Yokochi M., Mizuno Y., Shimizu N. Mutations in the Parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 392:1998;605-608
11. Kruger R., Kuhn W., Muller T., Woitalla D., Graeber M., Kosel S., Przuntek H., Epplen J.T., Schols L., Riess O. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat. Genet. 18(2):1998;106-108
12. Le W.D., Xu P., Jankovic J., Jiang H., Appel S.H., Smith R.G., Vassilatis D.K. Mutations in NR4A2 associated with familial Parkinson disease. Nat. Genet. 33:2003;85-89
13. Leroy E., Boyer R., Auburger G., Leroy E., Boyer R., Auburger G., Leube B., Ulm G., Mezey E., Harta G., Brownstein M.J., Jonnalagada S., Chernova T., Dehejia A., Lavedan C., Gasser T., Steinbach P.J., Wilkinson K.D., Polymeropoulos M.H. The ubiquitin pathway in Parkinson's disease. Nature. 395:1998;451-452
14. Macedo M.G., Anar B., Bronner I.F., Cannella M., Squitieri F., Bonifati V., Hoogeveen A., Heutink P., Rizzu P. The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes. Hum. Mol. Genet. 12(21):2003;2807-2816
15. Morris C.M., O'Brien K.K., Gibson A.M., Hardy J.A., Singleton A.B. Polymorphism in the human DJ-1 gene is not associated with sporadic dementia with Lewy bodies or Parkinson's disease. Neurosci. Lett. 352(2):2003;151-153
16. Polymeropoulos M.H., Lavedan C., Leroy E., Ide S.E., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R., Stenroos E.S., Chandrasekharappa S., Athanassiadou A., Papapetropoulos T., Johnson W.G., Lazzarini A.M., Duvoisin R.C., Di Iorio G., Golbe L.I., Nussbaum R.L. Mutation in alpha-synuclein gene identified in families with Parkinson's disease. Science. 276:1997;2045-2047
17. Rizzu P., Hinkle D.A., Zhukareva V., Bonifati V., Severijnen L.A., Martinez D., Ravid R., Kamphorst W., Eberwine J.H., Lee V.M., Trojanowski J.Q., Heutink P. DJ-1 colocalizes with tau inclusions: A link between parkinsonism and dementia. Ann. Neurol. 55(1):2004;113-118
18. Tan E.K., Khajavi M., Thornby J.I., Nagamitsu S., Jankovic J., Ashizawa T. Variability and validity of polymorphism association studies in Parkinson's disease. Neurology. 55(4):2000;533-538