GRIN2A : glutamate ionotropic receptor NMDA type subunit 2A
Title: The GRIN2A Gene: Unlocking the Secrets of Neuronal Communication
Description
Within the intricate tapestry of human DNA lies the GRIN2A gene, a blueprint for a crucial protein known as GluN2A. This protein plays a pivotal role in the symphony of neuronal communication that underlies our thoughts, memories, and behavior. Primarily found in nerve cells of the brain and spinal cord, GluN2A resides at the heart of NMDA receptors, gatekeepers that allow electrical signals to flow across neuron membranes.
Associated Diseases
Mutations within the GRIN2A gene have been linked to a spectrum of neurological disorders, including:
- Epilepsy: GRIN2A mutations can disrupt the delicate balance of neuronal activity, leading to seizures and other epileptic manifestations.
- Intellectual Disability: Impairments in GRIN2A function have been associated with intellectual disability, characterized by challenges in cognitive abilities and adaptive skills.
- Schizophrenia: Studies suggest that alterations in GRIN2A may contribute to the pathogenesis of schizophrenia, a debilitating psychiatric disorder that affects perception, thought, and behavior.
Did you Know ?
Research indicates that approximately 1 in every 1000 individuals carries a GRIN2A mutation, highlighting the prevalence of this genetic factor in neurological health.
