Guerreiro Pedro, Moysés-Oliveira Mariana, Paschalidis Mayara, Kloster Anna, Cunha Lais, Deconto Tais Bassani, Mosini Amanda Cristina, Marquezini Bruna Pereira, Adami Luana Nayara Gallego, Andersen Monica L, Tufik Sergio
Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil.
Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil.
J Clin Sleep Med. 2025 Jan 1;21(1):207-210. doi: 10.5664/jcsm.11316.
Neurodevelopmental disorders and sleep disturbances share genetic risk factors. genetic variants are associated with rare syndromes in which sleep disturbances are commonly reported, yet the specific sleep disorders in these patients, and the molecular mechanisms underlying this association, are unknown. We aimed to pinpoint specific biological processes that may be disrupted by pathogenic variants in this gene, comparing a list of DEAF1 regulatory target genes with a list of insomnia-associated genes, and using the intersect gene list as the input for pathway enrichment analysis. Thirty-nine DEAF1 regulatory targets were also identified as insomnia-associated genes, and the intersecting gene list was found to be strongly associated with immune processes, ubiquitin-mediated proteolysis pathways, and regulation of the cell cycle. This preliminary study highlights pathways that may be disrupted by pathogenic mutations and might be putative factors underlying the manifestation of insomnia in patients harboring such variants.
Guerreiro P, Moysés-Oliveira M, Paschalidis M, et al. Sleep disturbances associated with pathogenic variants. . 2025;21(1):207-210.
神经发育障碍和睡眠障碍共享遗传风险因素。基因变异与常见睡眠障碍的罕见综合征相关，但这些患者具体的睡眠障碍以及这种关联背后的分子机制尚不清楚。我们旨在通过比较DEAF1调控靶基因列表与失眠相关基因列表，并将交集基因列表作为通路富集分析的输入，来确定该基因中致病变异可能破坏的特定生物学过程。39个DEAF1调控靶点也被鉴定为失眠相关基因，并且发现交集基因列表与免疫过程、泛素介导的蛋白水解途径以及细胞周期调控密切相关。这项初步研究突出了可能被致病突变破坏的通路，这些通路可能是携带此类变异的患者出现失眠症状的潜在因素。
Guerreiro P, Moysés-Oliveira M, Paschalidis M, 等。与致病变异相关的睡眠障碍。. 2025;21(1):207 - 210。
