Neurodevelopmental disorders pose significant clinical challenges related to atypical brain development, often manifesting as learning disabilities, developmental delays, intellectual deficits, behavioral issues, epilepsy, and sleep disturbances. Among genetic neuropsychiatric conditions, synaptopathies are notable for their impact on synaptic function, resulting in varied neuropsychiatric phenotypes. Among these, SYNGAP1-associated syndrome is characterized by intellectual disability, global developmental delay, autism, and epilepsy, primarily due to loss-of-function mutations.
View Article and Find Full Text PDFGalectin-3 is a member of the lectin family, and is an intriguing protein that is found in diverse tissues across the body. It is known for its multifaceted involvement in various physiological functions, including tissue repair, immune function and neuroinflammation in the central nervous system. It also serves as a paracrine signal, promoting the growth of certain cells and contributing to fibrosis, while higher levels of Galectin-3 in the bloodstream correlate with an increased risk of mortality and cardiovascular disease-related outcomes in the general population.
View Article and Find Full Text PDFObjective: To establish an interaction network for genes related to premature ovarian insufficiency (POI) and insomnia, and to identify biological processes that connect POI to the physiological clock.
Methods: Previously reported lists of genes associated to POI and insomnia were contrasted and their intersection was used as input on protein-protein interaction analyses. POI-associated genes were contrasted with gene expression markers for neural circadian control and enriched pathways among their shared content were dissected.