Water Channel Proteins Emerge as Key to Understanding Autism and Developmental Disorders
Researchers have identified how aquaporins—proteins that regulate water balance in the brain—may drive neurodevelopmental disorders like autism and Fragile X syndrome. The finding opens a new therapeutic avenue for conditions affecting millions of children and could reshape how companies develop treatments for these disorders.
Originaltitel: Aquaporins: Bridging Normal Brain Development and Neurodevelopmental Disorder Mechanisms
Background: Homeostasis of water content in the brain during fetal development is of crucial physiological importance. Aquaporins (AQPs) play a critical role in maintaining brain water balance, supporting normal brain development, and are increasingly recognized for their relevance in understanding neurodevelopmental disorders. Summary: This review provides a comprehensive overview of AQPs and their essential roles in the central nervous system (CNS), specifically AQP4, AQP11, and AQP9, which play a crucial role in water transport in the brain, maintaining water homeostasis and facilitating water movement across cell membranes. The review also highlights how disruptions in AQP expression and function may contribute to the pathology of neurodevelopmental disorders such as autism and Fragile X syndrome. Key Messages: AQPs are vital for brain water regulation and normal neural development. Altered expression or function of AQPs can impact blood-brain barrier integrity, neuroinflammation, and synaptic activity. AQP dysfunctions are linked to neurodevelopmental disorders and may represent promising therapeutic targets.