Publications by authors named "Bruna Pereira Marquezini"
Article Synopsis
- Neurodevelopmental disorders and sleep issues share common genetic risks, with specific variants linked to rare syndromes that report sleep disturbances.
- The study aimed to identify biological processes affected by these genetic variants by comparing DEAF1 regulatory target genes with insomnia-associated genes.
- Findings revealed 39 overlapping genes primarily connected to immune processes, cell cycle regulation, and protein degradation, suggesting they may play a role in insomnia among patients with these genetic mutations.*
Pogo transposable element-derived protein with ZNF domain () gene encodes a chromatin regulator and rare variants on this gene have been associated with a broad spectrum of neurodevelopmental disorders, such as White-Sutton syndrome. Patient clinical manifestations frequently include developmental delay, autism spectrum disorder and obesity. Sleep disturbances are also commonly observed in these patients, yet the biological pathways which link sleep traits to the -associated syndrome remain unclear.
View Article and Find Full Text PDFArticle Synopsis
- * The study investigates the connection between genes regulated by CREBBP, a gene linked to RSTS, and genes associated with insomnia, finding a significant overlap that wasn't due to chance.
- * The research highlights pathways related to mitochondrial activity, suggesting that CREBBP's role in regulating gene expression may also influence sleep disturbances through effects on energy metabolism.
Article Synopsis
- The study explores the relationship between sleep and longevity, highlighting how insufficient or excessive sleep can impact health throughout life.
- The researchers identified 47 genes that connect sleep traits (like insomnia and sleep duration) with longevity, indicating more overlap than random chance.
- They also pinpointed biological pathways, particularly in endocrine and epigenetic regulation, that might help explain the shared mechanisms between sleep and a longer, healthier life.