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The relationship between neurodevelopmental transcriptional programs and insomnia: From Rubinstein-Taybi syndrome into energy metabolism.
Cunha, Lais; Paschalidis, Mayara; Moysés-Oliveira, Mariana; Marquezini, Bruna Pereira; Deconto, Tais Bassani; Guerreiro, Pedro; Kloster, Anna; Mosini, Amanda Cristina; Gallego Adami, Luana Nayara; Andersen, Monica L; Tufik, Sergio.
Afiliação
  • Cunha L; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil.
  • Paschalidis M; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil.
  • Moysés-Oliveira M; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil.
  • Marquezini BP; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil.
  • Deconto TB; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil.
  • Guerreiro P; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil.
  • Kloster A; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil.
  • Mosini AC; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil.
  • Gallego Adami LN; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil.
  • Andersen ML; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Tufik S; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: Sergio.Tufik@unifesp.br.
Sleep Med ; 112: 9-11, 2023 12.
Article em En | MEDLINE | ID: mdl-37801861
Neurodevelopmental disorders (NDD) are characterized by cognitive, emotional, and/or motor skills impairment since childhood, and sleep disturbances are a common comorbidity. Rubinstein-Taybi syndrome (RSTS), a rare genetic syndrome associated with NDD, is caused by CREBBP haploinsufficiency. This gene encodes an acetyltransferase with crucial role on the establishment of transcriptional programs during neurodevelopment. Although insomnia has been reported in RSTS patients, the convergent mechanisms between this sleep disturbance and CREBBP loss-of-function are not fully understood. We tested weather the genetic architecture underlying CREBBP regulatory targets and insomnia-associated genes is significantly shared. We then identified the biological pathways enriched among these shared genes. The intersection between CREBBP regulatory targets and genes associated with insomnia included 7 overlapping genes, indicating significantly more overlap than expected by chance. An over-representation analysis on these intersect genes identified pathways related to mitochondrial activity. This finding indicates that the transcriptional programs established by CREBBP might impact insomnia-related biological pathways through the modulation of energy metabolism. The overlapping gene set and biological pathways highlighted by this study may serve as a primer for new functional investigations of shared molecular mechanisms between insomnia and CREBBP regulatory targets.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi / Distúrbios do Início e da Manutenção do Sono Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Sleep Med Assunto da revista: NEUROLOGIA / PSICOFISIOLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Brasil País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi / Distúrbios do Início e da Manutenção do Sono Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Sleep Med Assunto da revista: NEUROLOGIA / PSICOFISIOLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Brasil País de publicação: Holanda