Análise do polimorfismo Val66Met do gene BDNF e possível correlação no desempenho em atividades cognitivas de jovens universitários
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Tipo
TCC
Data de publicação
2024-12
Periódico
Citações (Scopus)
Autores
Santos, Rodrigo Righi Depoli dos
Orientador
Costa, Ana Paula Pimentel
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Resumo
O fator neurotrófico derivado do cérebro (BDNF) é a neurotrofina mais abundante expressa no
sistema nervoso central. O BDNF desempenha um papel essencial na sobrevivência neuronal,
especialmente em áreas responsáveis pela memória e aprendizagem. Diversos polimorfismos
são encontrados no gene BDNF, como o polimorfismo de um único nucleotídeo (SNP)
Val66Met (rs6265), que é responsável, por uma transformação de G para A, resultando na
substituição do aminoácido valina (Val) por metionina (Met) na posição (códon) 66 do gene
BDNF. Ele tem sido associado à redução do funcionamento cognitivo em adultos saudáveis.
Diferentes tipos de comprometimento de memória têm sido relacionados ao SNP Val66Met.
Neste trabalho, foram determinadas as frequências genotípicas e alélicas do polimorfismo
Val66Met do BDNF em um grupo de jovens universitários. Foi realizado um levantamento
populacional inicial de base transversal. Nossa amostra foi composta por estudantes
matriculados no projeto “Sucesso Acadêmico”, um programa de extensão da Universidade
Presbiteriana Mackenzie, no qual dados sociodemográficos e epidemiológicos já haviam sido
coletados. O DNA foi extraído de células epiteliais bucais, e o PCR-RFLP foi realizado para a
genotipagem. Foram encontrados os três grupos genotípicos do polimorfismo Val66Met:
Val66Val (55%), Val66Met (38%) e Met66Met (7%). Todas as frequências genotípicas estão
em equilíbrio de Hardy-Weinberg (P > 0,05). Comparamos a frequência alélica observada G/A
com estudos anteriores. Observamos uma frequência do alelo A de 0,26, que foi maior do que
em algumas populações europeias (0,19), africanas (0,04) e latino-americanas (0,16). Por outro
lado, a frequência do alelo G (0,73) foi menor do que a observada nesses grupos. Esta é a coleta
inicial de dados e estudos adicionais serão realizados para explorar se o polimorfismo Val66Met
do BDNF está correlacionado ao desempenho cognitivo em jovens brasileiros.
Brain-derived neurotrophic factor (BDNF) is the most abundant neurotrophin expressed in the central nervous system. BDNF plays an essential role in neuronal survival, especially in areas responsible for memory and learning. Several polymorphisms are found in the BDNF gene, such as the single nucleotide polymorphism (SNP) Val66Met (rs6265), which is responsible, at position (codon) 66 of the BDNF gene, for the substitution of the amino acids valine (Val) to methionine (Met), resulting in a G>A transformation. It has been linked to impaired cognitive functioning in healthy adults. Different types of memory impairment have been associated with the Val66Met SNP. In this work, the genotype and allele frequencies of BDNF val66Met polymorphism were determined in a group of young university students. An initial cross sectional population-based survey was conducted. Our sample was composed of students enrolled in the “Academic Success” project, an extension UPM program, where sociodemographic and epidemiological data have already been collected. DNA was extracted from buccal epithelial cells, and PCR-RFLP was performed for genotyping. The three genotype groups of the Val66Met polymorphism, Val66Val (55%), Val66Met (38%) and Met 66Met (7%) were found. All genotype frequencies are in Hardy Weinberg equilibrium (P>0.05). We compared the observed G/A allelic frequency with previous studies. We observed an A allelic frequency of 0,26 that was higher than some European (0,19), African (0,04) and Latin American (0,16) populations. Conversely the G allele frequency (0,73) was lower than observed in these groups. This is the initial gathering of data further studies will be accomplished to explore whether variants of BDNF Val66Met polymorphisms were correlated with cognitive performance in young Brazilian individuals.
Brain-derived neurotrophic factor (BDNF) is the most abundant neurotrophin expressed in the central nervous system. BDNF plays an essential role in neuronal survival, especially in areas responsible for memory and learning. Several polymorphisms are found in the BDNF gene, such as the single nucleotide polymorphism (SNP) Val66Met (rs6265), which is responsible, at position (codon) 66 of the BDNF gene, for the substitution of the amino acids valine (Val) to methionine (Met), resulting in a G>A transformation. It has been linked to impaired cognitive functioning in healthy adults. Different types of memory impairment have been associated with the Val66Met SNP. In this work, the genotype and allele frequencies of BDNF val66Met polymorphism were determined in a group of young university students. An initial cross sectional population-based survey was conducted. Our sample was composed of students enrolled in the “Academic Success” project, an extension UPM program, where sociodemographic and epidemiological data have already been collected. DNA was extracted from buccal epithelial cells, and PCR-RFLP was performed for genotyping. The three genotype groups of the Val66Met polymorphism, Val66Val (55%), Val66Met (38%) and Met 66Met (7%) were found. All genotype frequencies are in Hardy Weinberg equilibrium (P>0.05). We compared the observed G/A allelic frequency with previous studies. We observed an A allelic frequency of 0,26 that was higher than some European (0,19), African (0,04) and Latin American (0,16) populations. Conversely the G allele frequency (0,73) was lower than observed in these groups. This is the initial gathering of data further studies will be accomplished to explore whether variants of BDNF Val66Met polymorphisms were correlated with cognitive performance in young Brazilian individuals.
Descrição
Palavras-chave
Fator neurotrófico derivado do cérebro (BDNF) , Polimorfismo Val66Met , Genótipo , Brain-derived neurotrophic factor (BDNF) , Val66Met polymorphism , Genotype