Abstract
Early onset parkinsonism (EOP) has been associated with mutations in the Parkin, PINK1, and DJ-1 genes. We studied the prevalence of mutations in all three genes in 127 unrelated Chinese patients with apparently sporadic EOP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 16 patients (12.6%) with mutations of Parkin gene, four patients (3.1%) with mutations of PINK1 gene, and three patients (2.4%) with mutation of DJ-1 gene. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with sporadic EOP. Mutations of DJ-1 and PINK1 gene are also found in Chinese patients with sporadic EOP.
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References
Belin AC, Westerlund M (2008) Parkinson’s disease: a genetic perspective. FEBS J 275:1377–1383
Kitada T, Asakawa S, Hattori N et al (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605–608
Valente EM, Abou-Sleiman PM, Caputo V et al (2004) Hereditary early-onset Parkinson’s disease caused by mutations in PINK1. Science 304:1158–1160
Bonifati V, Rizzu P, van Baren MJ et al (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299:256–259
Periquet M, Latouche M, Lohmann E et al (2003) Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 126:1271–1278
Wu RM, Bounds R, Lincoln S et al (2005) Parkin mutations and early-onset parkinsonism in a Taiwanese cohort. Arch Neurol 62:82–87
Hedrich K, Marder K, Harris J et al (2002) Evaluation of 50 probands with early-onset Parkinson’s disease for Parkin mutations. Neurology 58:1239–1246
Valente EM, Salvi S, Ialongo T et al (2004) PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol 56:336–341
Bonifati V, Rohé CF, Breedveld GJ et al (2005) Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 65:87–95
Rogaeva E, Johnson J, Lang AE et al (2004) Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol 61:1898–1904
Hatano Y, Sato K, Elibol B et al (2004) PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations. Neurology 63:1482–1485
Li Y, Tomiyama H, Sato K et al (2005) Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. Neurology 64:1955–1957
Hatano Y, Li Y, Sato K et al (2004) Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 56:424–427
Hague S, Rogaeva E, Hernandez D et al (2003) Early-onset Parkinson’s disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol 54:271–274
Abou-Sleiman PM, Healy DG, Quinn N et al (2003) The role of pathogenic DJ-1 mutations in Parkinson’s disease. Ann Neurol 54:283–286
Hedrich K, Djarmati A, Schäfer N et al (2004) DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Hum Genet 62:389–394
Tan EK, Tan C, Zhao Y et al (2004) Genetic analysis of DJ-1 in a cohort Parkinson’s disease patients of different ethnicity. Neurosci Lett 367:109–112
Lockhart PJ, Bounds R, Hulihan M et al (2004) Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism. Mov Disord 19:1065–1069
Guo JF, Xiao B, Liao B et al (2008) Mutation analysis of parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset parkinsonism. Mov Disord 23:2074–2079
Hedrich K, Eskelson C, Wilmot B et al (2004) Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 9:1146–1157
Tang B, Xiong H, Sun P et al (2006) Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson’s disease. Hum Mol Genet 15:1816–1825
Acknowledgment
This work was supported by grant 2006cb500700 from the Major State Basic Research Development Program of China (973 Program) (to Dr. Beisha Tang), grant 2006AA02A408 from the National “863” High-Tech Research and Development Program of China (to Dr. Beisha Tang), grants 30570638, 30770735 and 30971035 from the National Natural Science Foundation of China (to Dr. Beisha Tang), grants 30900469 from the National Natural Science Foundation of China (to Dr. Jifeng Guo). We would like to thank Drs. Lucking, Brice, Valente, Bonifati for providing us with the positive control with heterozygous exon deletion of Parkin, PINK1 and DJ-1, respectively. We would like to thank the families for their participation in this study.
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J. Guo and X. Zhang are contributed equally to the study.
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Guo, Jf., Zhang, Xw., Nie, Ll. et al. Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism. J Neurol 257, 1170–1175 (2010). https://doi.org/10.1007/s00415-010-5485-8
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DOI: https://doi.org/10.1007/s00415-010-5485-8