Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease
Joint Authors
Moura, Karla Cristina Vasconcelos
Campos Junior, Mário
de Rosso, Ana Lúcia Zuma
Nicaretta, Denise Hack
Pereira, João Santos
Silva, Delson José
dos Santos, Flávia Lima
Rodrigues, Fabíola da Costa
Santos-Rebouças, Cíntia Barros
Pimentel, Márcia Mattos Gonçalves
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-08-26
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Parkinson's disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65.
The etiology of Parkinson's disease is complex, with the involvement of gene-environment interactions.
Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5–10% of all cases.
In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early-onset Parkinson's disease through automatic sequencing.
We identified six missense variants in PARK2 gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes.
No pathogenic mutation was identified in PINK1 gene, only benign polymorphisms.
All putative pathogenic variants found in this study were in heterozygous state.
Our data show that PARK2 point mutations are more common in Brazilian early-onset Parkinson's disease patients (2.9%) than PINK1 missense variants (0%), corroborating other studies worldwide.
American Psychological Association (APA)
Moura, Karla Cristina Vasconcelos& Campos Junior, Mário& de Rosso, Ana Lúcia Zuma& Nicaretta, Denise Hack& Pereira, João Santos& Silva, Delson José…[et al.]. 2013. Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease. Disease Markers،Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-1005847
Modern Language Association (MLA)
Moura, Karla Cristina Vasconcelos…[et al.]. Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease. Disease Markers No. 2013 (2013), pp.1-5.
https://search.emarefa.net/detail/BIM-1005847
American Medical Association (AMA)
Moura, Karla Cristina Vasconcelos& Campos Junior, Mário& de Rosso, Ana Lúcia Zuma& Nicaretta, Denise Hack& Pereira, João Santos& Silva, Delson José…[et al.]. Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease. Disease Markers. 2013. Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-1005847
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1005847