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Previous issue date: 2015-05-12 / As doen?as neurodegenerativas s?o objeto frequente de estudo devido
ao n?mero crescente de casos associados ao processo de envelhecimento
populacional e pelo impacto que causam na qualidade de vida dos indiv?duos.
A doen?a de Parkinson (DP) ? a segunda doen?a neurodegenerativa mais
frequente. Apesar da sua etiologia ainda n?o ser completamente conhecida,
sabe-se que a mesma ? causada por fatores ambientais e gen?ticos. Assim, a
investiga??o dos fatores etiol?gicos e os mecanismos respons?veis pelas
altera??es que levam a DP podem contribuir para o seu diagn?stico e
preven??o. Uma poss?vel associa??o entre DP e o polimorfismo comum do
Fator Neurotr?fico Derivado do C?rebro (BDNF) G196A (Val66Met) tem sido
sugerido por diferentes estudos com resultados contrastantes. Por esse motivo,
o objetivo deste estudo ? verificar se o polimorfismo BDNF Val66Met confere
susceptibilidade a DP em uma amostra de pacientes brasileiros e se isso
implica em quaisquer altera??es no n?vel de BDNF em sangue total e na
manifesta??o de sintomas. A amostra foi constitu?da de pacientes
acompanhados pelo servi?o de neurologia do Hospital Universit?rio Onofre
Lopes (HUOL) e controles saud?veis (CTRL). Os aspectos motores da DP
foram avaliados pela Escala de Hoehn e Yahr (HY), Unified Parkinson?s
Disease Rating Scale (UPDRS) e Escala de Atividades Di?rias de Schwab e
England (SE). Para a avalia??o dos aspectos n?o-motores foram utilizados os
instrumentos: Bateria de Avalia??o Frontal (BAF), Mini Exame do Estado
Mental (MEEM), Invent?rio de Depress?o de Beck (IDB) e o Invent?rio de
Ansiedade de Beck (IAB). Amostras de sangue foram coletadas para a
genotipagem do polimorfismo Val66Met e mensura??o da concentra??o de
BDNF em sangue total. Como esperado, os pacientes com DP apresentaram
pior desempenho na avalia??o motora, cognitiva e emocional. A distribui??o
dos alelos entre os grupos n?o foi significativamente diferente, por?m o
gen?tipo A/G foi associado significativamente como protetor para a DP. O
gen?tipo G/G, por sua vez, foi associado significativamente com o
desenvolvimento de depress?o e ansiedade em pacientes com DP. No
entanto, as concentra??es de BDNF n?o foram diferentes entre os gen?tipos
ou grupos. Este ? o primeiro estudo de associa??o gen?tica desse
polimorfismo com a DP no Brasil e o primeiro que associou o heterozigoto A/G
com prote??o contra a DP. / Neurodegenerative diseases are frequently studied due to the increasing
number of cases associated with the populational ageing and to the impact on
the conditions on the quality of life. Parkinson?s disease (DP) is the second
most frequent neurodegenerative disease. Despite the fact that its etiology is
not completely understood, it is known that DP is caused by environmental and
genetic factors. Thus, the investigation of etiologic factors and mechanisms
responsible for the changes that lead to DP may help early diagnostic and
prevention. A possible association between DP and the common polymorphism
of Brain Derived Neurotrophic Factor (BDNF) G196A (Val66Met) has been
suggested by different studies with contrasting results. For this reason, the aim
of this study is to investigate if the BDNF Val66Met polymorphism is related to
susceptibility to DP in a cohort of Brazilian patients. Additionaly, we verify if the
presence of the polymorphism implies in alterations in the BDNF whole blood
concentrations, as well as variations in symptomatology. The sample
comprised Brazilian patients accompanied by the neurology service of the
Onofre Lopes University Hospital (HUOL) and healthy controls (CTRL). The
motor aspects of DP were evaluated by Hoehn e Yahr Scale (HY), Unified
Parkinson?s Disease Rating Scale (UPDRS) and Schwab & England Scale
(SE). For the evaluation of non-motor symptoms were used the following
instruments: Frontal Assessment Battery (BAF), Mini-Mental State Examination
(MEEM), Beck Depression Inventory (IDB) and the Beck Anxiety Inventory
(IAB). Blood samples were collected for BDNF Val66Met polymorphism
genotyping and BDNF whole blood measurement. As expected, DP patients
performed worse in motor, cognitive and emotional battery of questionnaires.
Alleles distribution between DP and CTRL was not significantly different, but the
A/G genotype was significantly associated with a protector factor for DP. In
contrast, the G/G genotype was significantly associated with depression and
anxiety development in DP patients. However, BDNF concentrations were not
different between genotypes or groups. This is the first study of genetic
association of this polymorphism with DP in Brazilian subjects and the first one
that associate A/G genotype with protection against DP.
| Identifer | oai:union.ndltd.org:IBICT/oai:repositorio.ufrn.br:123456789/20172 |
| Date | 12 May 2015 |
| Creators | Cagni, Fernanda Carvalho |
| Contributors | 18747270829, http://lattes.cnpq.br/0101190051087933, Andrade, Tiago Gomes de, 02697210458, http://lattes.cnpq.br/0995435972741771, Ribeiro, Alessandra Mussi, 26403824899, http://lattes.cnpq.br/7373640456805525, Silva, Regina Helena da |
| Publisher | Universidade Federal do Rio Grande do Norte, PROGRAMA DE P?S-GRADUA??O EM PSICOBIOLOGIA, UFRN, Brasil |
| Source Sets | IBICT Brazilian ETDs |
| Language | Portuguese |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, info:eu-repo/semantics/masterThesis |
| Source | reponame:Repositório Institucional da UFRN, instname:Universidade Federal do Rio Grande do Norte, instacron:UFRN |
| Rights | info:eu-repo/semantics/openAccess |
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