Learn more about this rare disease, how it affects our families, and how we're helping to find treatment.
PSD-95: A Synaptic Key to Neurodevelopment and Neurodegeneration
At the heart of every thought, movement, and memory lies a complex network of synapses where brain cells communicate. One protein, PSD-95 (Postsynaptic Density Protein 95), plays a central role in organizing and stabilizing these connections. Encoded by the DLG4 gene, PSD-95 regulates ion channels and neurotransmitter receptors critical for brain function.
In individuals with DLG4 SHINE Syndrome, mutations in DLG4 disrupt PSD-95, leading to a cascade of neurodevelopmental challenges: intellectual disability, epilepsy, autism spectrum disorder, motor disorders, and more. But the implications of PSD-95 dysfunction extend far beyond SHINE.
DLG4 SHINE, Alzheimer's, and Huntington's Diseases
Research has linked altered PSD-95 expression to:
• Alzheimer’s disease, where synaptic loss and receptor misregulation are hallmarks of cognitive decline
• Huntington’s disease, where excitotoxicity and disrupted glutamate signaling contribute to neuronal death
These conditions share molecular pathways with SHINE Syndrome, particularly involving NMDA and AMPA receptors and Kv1 ion channels, all regulated by PSD-95. Studying PSD-95 in the context of DLG4 SHINE Syndrome offers a unique opportunity to understand its broader role in brain health—and to identify potential new therapeutic targets.
DLG4 SHINE Foundation: Your PSD-95 Research Partner
We believe PSD-95 is a cross-cutting research priority. As a foundation focused on rare disease, we offer:
• Access to a well-characterized patient population with defined PSD-95 dysfunction
• Expertise in synaptopathy and ion channel research
• A collaborative mindset, ready to co-fund studies and share data across disease communities
Whether you're advancing Alzheimer’s research, exploring Huntington’s mechanisms, or developing neuroprotective therapies, PSD-95 may be the missing link.