Topic: fragile x

Proper intracellular Cl concentration is fundamental for physiological brain development and function. Accordingly, the aberrant expression of Cl importer NKCC1 and/or exporter KCC2 is implicated in several brain conditions, including autism spectrum disorders (ASD), Down syndrome (DS), and drug-resistant epilepsy (DRE). Interestingly, NKCC1 inhibition rescues core symptoms of these brain conditions in rodent models and/or clinical trials. However, current NKCC1 inhibitors have diuretic effects by also inhibiting the kidney Cl transporter NKCC2. These diuretic effects pose critical health conc

Diverse neurodevelopmental syndromes (e.g. Fragile X) are caused by alterations in specific genes leading to pervasive impairments comorbid with autism (i.e. social and repetitive behaviors). Although all ASDs converge into common core behaviors, genetic variants in ASD are very heterogeneous. Here, we describe a cleavable cell adhesion molecule (Negr1) as upregulated in the brain of 5 diverse mouse models of ASDs (including Fragile X) and postmortem brains from people with autism or Fragile X, and causative of core ASD behaviors and brain alterations when up-regulated in wild-type (WT) animal