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Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes.
Dis Markers. 2012; 32(3):173-8.DM

Abstract

Parkinson's disease is one of the most common neurodegenerative disorders associated with aging, reaching ∼ 2% of individuals over 65 years. Knowledge achieved in the last decade about the genetic basis of Parkinson's disease clearly shows that genetic factors play an important role in the etiology of this disorder. Exon dosage variations account for a high proportion of Parkinson's disease mutations, mainly for PARKIN gene. In the present study, we screened genomic rearrangements in SNCA, PARKIN, PINK1 and DJ-1 genes in 102 Brazilian Parkinson's disease patients with early onset (age of onset ⩽ 50 years), using the multiplex ligation-dependent probe amplification method. Family history was reported by 24 patients, while 78 were sporadic cases. Screening of exon dosage revealed PARKIN and PINK1 copy number variations, but no dosage alteration was found in SNCA and DJ-1 genes. Most of the carriers harbor heterozygous deletions or duplications in the PARKIN gene and only one patient was found to have a deletion in PINK1 exon 1. Data about dosage changes are scarce in the Brazilian population, which stresses the importance of including exon dosage analysis in Parkinson's disease genetic studies.

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Authors+Show Affiliations

Moura KC
Instituto de Biologia Roberto Alcantara Gomes, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
Junior MC
No affiliation info available
de Rosso AL
No affiliation info available
Nicaretta DH
No affiliation info available
Pereira JS
No affiliation info available
José Silva D
No affiliation info available
Santos-Rebouças CB
No affiliation info available
Pimentel MM
No affiliation info available

MeSH

AdultAge of OnsetBrazilCase-Control StudiesDNA Copy Number VariationsDNA Mutational AnalysisExonsFemaleGene DosageGene DuplicationHeterozygoteHumansIntracellular Signaling Peptides and ProteinsMaleMiddle AgedMultiplex Polymerase Chain ReactionMutationOncogene ProteinsParkinson DiseaseProtein Deglycase DJ-1Protein KinasesSequence DeletionUbiquitin-Protein Ligasesalpha-Synuclein

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22377733

Citation

Moura, Karla Cristina Vasconcelos, et al. "Exon Dosage Variations in Brazilian Patients With Parkinson's Disease: Analysis of SNCA, PARKIN, PINK1 and DJ-1 Genes." Disease Markers, vol. 32, no. 3, 2012, pp. 173-8.
Moura KC, Junior MC, de Rosso AL, et al. Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes. Dis Markers. 2012;32(3):173-8.
Moura, K. C., Junior, M. C., de Rosso, A. L., Nicaretta, D. H., Pereira, J. S., José Silva, D., Santos-Rebouças, C. B., & Pimentel, M. M. (2012). Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes. Disease Markers, 32(3), 173-8. https://doi.org/10.3233/DMA-2011-0873
Moura KC, et al. Exon Dosage Variations in Brazilian Patients With Parkinson's Disease: Analysis of SNCA, PARKIN, PINK1 and DJ-1 Genes. Dis Markers. 2012;32(3):173-8. PubMed PMID: 22377733.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes. AU - Moura,Karla Cristina Vasconcelos, AU - Junior,Mário Campos, AU - de Rosso,Ana Lúcia Zuma, AU - Nicaretta,Denise Hack, AU - Pereira,João Santos, AU - José Silva,Delson, AU - Santos-Rebouças,Cíntia Barros, AU - Pimentel,Márcia Mattos Gonçalves, PY - 2012/3/2/entrez PY - 2012/3/2/pubmed PY - 2012/6/16/medline SP - 173 EP - 8 JF - Disease markers JO - Dis Markers VL - 32 IS - 3 N2 - Parkinson's disease is one of the most common neurodegenerative disorders associated with aging, reaching ∼ 2% of individuals over 65 years. Knowledge achieved in the last decade about the genetic basis of Parkinson's disease clearly shows that genetic factors play an important role in the etiology of this disorder. Exon dosage variations account for a high proportion of Parkinson's disease mutations, mainly for PARKIN gene. In the present study, we screened genomic rearrangements in SNCA, PARKIN, PINK1 and DJ-1 genes in 102 Brazilian Parkinson's disease patients with early onset (age of onset ⩽ 50 years), using the multiplex ligation-dependent probe amplification method. Family history was reported by 24 patients, while 78 were sporadic cases. Screening of exon dosage revealed PARKIN and PINK1 copy number variations, but no dosage alteration was found in SNCA and DJ-1 genes. Most of the carriers harbor heterozygous deletions or duplications in the PARKIN gene and only one patient was found to have a deletion in PINK1 exon 1. Data about dosage changes are scarce in the Brazilian population, which stresses the importance of including exon dosage analysis in Parkinson's disease genetic studies. SN - 1875-8630 UR - https://www.unboundmedicine.com/medline/citation/22377733/Exon_dosage_variations_in_Brazilian_patients_with_Parkinson's_disease:_analysis_of_SNCA_PARKIN_PINK1_and_DJ_1_genes_ L2 - https://doi.org/10.3233/DMA-2011-0873 DB - PRIME DP - Unbound Medicine ER -