Banca de DEFESA: CLARISSA LOUREIRO DAS CHAGAS CAMPÊLO

Uma banca de DEFESA de DOUTORADO foi cadastrada pelo programa.
DISCENTE : CLARISSA LOUREIRO DAS CHAGAS CAMPÊLO
DATA : 14/03/2017
HORA: 08:30
LOCAL: Anfiteatro das Aves
TÍTULO:

Polymorphisms in Alpha-synuclein Gene: risk for Parkinson´s disease and associations with motor and non-motor symptoms

PALAVRAS-CHAVES:

Parkinson’s disease; alpha-synuclein; SNCA; polymorphism; clinical outcomes.

PÁGINAS: 136
GRANDE ÁREA: Ciências Humanas
ÁREA: Psicologia
RESUMO:

Increasing evidence indicate that genetic susceptibility contributes to the etiology of sporadic Parkinson´s Disease (PD). Genetic variations in SNCA gene, which encodes alpha-synuclein protein, are already well established in linkage and GWAS studies. Worldwide studies have find positive association of single nucleotide polymorphism (SNP) in SNCA and the increase risk for PD. In addition, variants in SNCA can influence individual traits or phenotypes of sporadic PD. The present study investigated associations between SNPs in SNCA gene and motor and non-motor symptoms of PD in a Brazilian population. 206 subjects (PD group= 105 and Control group = 101) participated in this study. The patients with PD were recruited from the neurology clinic of Onofre Lopes University Hospital, in Natal (RN, Brazil). We used questionnaires and scales to evaluate the healthy history, environmental factors, motor (Hoehn & Yarh e Unified Parkinson´s Disease Rating Scale), functional (Schwab & England), cognitive (Frontal Assessment Battery and Mini Mental State Examination) and emotional (Beck Depression Inventory and Beck Anxiety Inventory) aspects of the subjects. We also collected a blood sample to DNA extraction and genotyping of SNPs rs11931074, rs356219, rs2583988 and rs2736990. Regarding clinical assessment, the PD group presented motor impairment associated to a moderate decrease of functional capacity. The cognitive impairments were more evident in individuals with low education. Depressive and anxiety symptoms had a higher frequency and severity in PD group. All SNPs were more frequent in PD patients (p<0.05), and the associations of SNPs rs2583988, rs356219 and rs2736990 with increased PD risk were confirmed. The G-rs356219 and C-rs2736990 alleles had a significant higher frequency in patients with early onset PD. T-rs2583988, G-rs356219 and C-2736990 risk alleles were significantly more frequent in PD patients with cognitive impairments than controls in this condition. Furthermore, the presence of cognitive impairment was a predictor for PD in a logistic regression model. This study demonstrated for the first time an association of SNCA polymorphisms and PD in a South-American sample.

MEMBROS DA BANCA:
Externo à Instituição - GEISON DE SOUZA IZÍDIO - UFSC
Interno - 2351800 - JEFERSON DE SOUZA CAVALCANTE
Externo à Instituição - JOSE RONALDO DOS SANTOS - UFS
Interno - 6346130 - MARIA BERNARDETE CORDEIRO DE SOUSA
Presidente - 187.472.708-29 - REGINA HELENA DA SILVA - UNIFESP