Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease

• Published in: Neuroscience letters Vol. 485; no. 2; pp. 121 - 124
• Main Authors: dos Santos, Adriana Vaz, Pestana, Cristiane Pinheiro, Diniz, Karen Rafaella da Silva, Campos, Mário, Abdalla-Carvalho, Cláudia Bueno, de Rosso, Ana Lúcia Zuma, Pereira, João Santos, Nicaretta, Denise Hack, de Carvalho, William Luciano, dos Santos, Jussara Mendonça, Santos-Rebouças, Cíntia Barros, Pimentel, Márcia Mattos Gonçalves
• Format: Journal Article
• Language: English
• Published: Ireland Elsevier Ireland Ltd 19-11-2010
• Subjects: Age Factors; Aged; ATP13A2; Brazil - ethnology; Carrier Proteins - genetics; DNA Mutational Analysis - methods; Female; GBA; Genetic Predisposition to Disease - genetics; GIGYF2; Glucosylceramidase - genetics; Humans; Male; Middle Aged; Parkinson Disease - enzymology; Parkinson Disease - genetics; Parkinson Disease - metabolism; Parkinson's disease; Proton-Translocating ATPases - genetics; Risk Factors; Brazil; ATP13A2; Parkinson's disease; GIGYF2; GBA
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/j.neulet.2010.08.083

▶ No clearly pathogenic mutations were identified in
ATP13A2 and
GIGYF2. ▶ We identified a higher frequency of mutations in
GBA among PD cases than controls. ▶
GIGYF2 and
ATP13A2 do not seem to contribute to PD in Brazilian patients. ▶ Our results support an association between
GBA mutations and PD.
In the last decade, several genes have been linked to Parkinson's disease (PD), including
GIGYF2,
ATP13A2 and
GBA. To explore whether mutations in these genes contribute to development of PD in the Brazilian population, we screened 110 patients with early-onset PD. No clearly pathogenic mutations were identified in
ATP13A2 and
GIGYF2. In contrast, we identified a significantly higher frequency of known pathogenic mutations in
GBA gene among the PD cases (6/110
=
5.4%) when compared to the control group (0/155) (
P
=
0.0047). Our results strongly support an association between
GBA gene mutations and an increased risk of PD. Mutations in
GIGYF2 and
ATP13A2 do not seem to represent a risk factor to the development of PD in the Brazilian population. Considering the scarcity of studies on
GIGYF2,
ATP13A2 and
GBA mutation frequency in Latin American countries, we present significant data about the contribution of these genes to PD susceptibility.