Isoform-selective phosphoinositide 3-kinase inhibition ameliorates a broad range of fragile X syndrome-associated deficits in a mouse model
Isoform-selective phosphoinositide 3-kinase inhibition ameliorates a broad range of fragile X syndrome-associated deficits in a mouse model
Defects in the phosphoinositide 3-kinase (PI3K) pathway are shared characteristics in several brain disorders, including the inherited intellectual disability and autism spectrum disorder, fragile X syndrome (FXS). PI3K signaling therefore could serve as a therapeutic target for FXS and other brain disorders. However, broad inhibition of such a central signal transduction pathway involved in essential cellular functions may produce deleterious side effects. Pharmacological strategies that selectively correct the overactive components of the PI3K pathway while leaving other parts of the pathway intact may overcome these challenges. Here, we provide the first evidence that disease mechanism-based PI3K isoform-specific inhibition may be a viable treatment option for FXS. FXS is caused by loss of the fragile X mental retardation protein (FMRP), which translationally represses specific messenger RNAs, including the PI3K catalytic isoform p110β. FMRP deficiency increases p110β protein levels and activity in FXS mouse models and in cells from subjects with FXS. Here, we show that a novel, brain-permeable p110β-specific inhibitor, GSK2702926A, ameliorates FXS-associated phenotypes on molecular, cellular, behavioral, and cognitive levels in two different FMRP-deficient mouse models. Rescued phenotypes included increased PI3K downstream signaling, protein synthesis rates, and dendritic spine density, as well as impaired social interaction and higher-order cognition. Several p110β-selective inhibitors, for example, a molecule from the same chemotype as GSK2702926A, are currently being evaluated in clinical trials to treat cancer. Our results suggest that repurposing p110β inhibitors to treat cognitive and behavioral defects may be a promising disease-modifying strategy for FXS and other brain disorders.
- University of Cincinnati United States
- University System of Ohio United States
- GlaxoSmithKline (United States) United States
- Yerkes National Primate Research Center United States
- Cincinnati Children's Hospital Medical Center United States
Disease Models, Animal, Fragile X Mental Retardation Protein, Mice, Cognition, Behavior, Animal, Dendritic Spines, Fragile X Syndrome, Animals, Brain, Motor Activity, Protein Kinase Inhibitors, Phosphoinositide-3 Kinase Inhibitors
Disease Models, Animal, Fragile X Mental Retardation Protein, Mice, Cognition, Behavior, Animal, Dendritic Spines, Fragile X Syndrome, Animals, Brain, Motor Activity, Protein Kinase Inhibitors, Phosphoinositide-3 Kinase Inhibitors
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