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Sustainable Development Goals
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- IOC - Artigos de Periódicos [12976]
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GENETIC ANALYSIS OF PARK2 AND PINK1 GENES IN BRAZILIAN PATIENTS WITH EARLY-ONSET PARKINSON’S DISEASE
Brazilian Patients
Genetic Analysis
PARK2 Genes
PINK1 Genes
Early-Onset Parkinson’s Disease
Author
Affilliation
Abstract
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 pointmutations aremore common in Brazilian early-onset Parkinson’s disease patients (2.9%) than PINK1 missense variants
(0%), corroborating other studies worldwide.
Keywords
Parkinson’s DiseaseBrazilian Patients
Genetic Analysis
PARK2 Genes
PINK1 Genes
Early-Onset Parkinson’s Disease
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