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A unique methylation pattern co-segregates with neural tube defect statuses in Han Chinese pedigrees.
Neurol Sci ; 38(12): 2153-2164, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28980068
Neural tube defects (NTDs) are a complex trait associated with gene-environment interactions. Folic acid deficiency and planar cell polarity gene mutations account for some NTD cases; however, the etiology of NTDs is still little understood. In this study, in three Han Chinese NTD pedigrees (two with multiple affected children), with no information on folic acid deficiency or supplement, we examined genome-wide methylation profiles of each individual in these families. We further compared methylation status among cases and normal individuals within the pedigrees. A unique methylation pattern co-segregated with affected status NTD cases had more hypermethylated than hypomethylated CpG islands; genes with different methylations clustered in pathways associated with epithelial-to-mesenchymal transition (ZEB2, SMAD6, and CDH23), folic acid/homocysteine metabolism (MTHFD1L), transcription/nuclear factors (HDAC4, HOXB7, SOX18), cell migration/motility/adhesion, insulin and cell growth, and neuron/axon development. Although the genetics of NTD are likely complex, epigenetic changes may concentrate in certain key pathways.





Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Metilação de DNA / Defeitos do Tubo Neural Tipo de estudo: Relato de casos Limite: Feminino / Humanos / Lactente / Masculino / Recém-Nascido País/Região como assunto: Ásia Idioma: Inglês Revista: Neurol Sci Assunto da revista: Neurologia Ano de publicação: 2017 Tipo de documento: Artigo