GRIN2A mutations contribute to epilepsy

Researchers from the King's College London and the Eli Lilly Research Centre in the UK have demonstrated how genetic mutations can lead to epilepsy-aphasia spectrum, a group of genetic epilepsy syndromes characterized by various speech and language problems. Their findings have been published in Scientific Reports and study first author is L. Addis.

Defects in a gene called GRIN2A have been linked with several types of childhood epilepsy associated with speech and language problems. Epilepsy is a brain disease that occurs when a person has repeated seizures. In epilepsy, brain cells create abnormal electricity, causing seizures. The condition can affect people of all ages, but it usually begins during childhood. In 2013, epilepsy affected approximately 22 million people worldwide, resulting in 116,000 deaths.

The GRIN2A gene makes a protein called GluN2A, which is a subunit of the NMDAR, an ion channel found in nerve cells. NMDAR is crucial for normal brain development, synaptic plasticity, learning, and memory. Disturbances of  NMDARs are implicated in schizophrenia, Alzheimer's disease, and some other neuronal diseases.

To date, more than 30 missense mutations of GRIN2A have been identified in patients with epilepsy-aphasia spectrum disorders. In this study, Addis and colleagues selected 10 of the mutations for characterization. Results showed that GRIN2A mutations affect the expression and function of NMDAR in different ways. As a consequence, NMDAR works far less effectively than it should. The researchers believed that this might explain why people carrying these GRIN2A mutations develop epilepsy.

In vitro experiments showed that a GluN2A-selective positive allosteric modulator could rescue the function of the protein. These findings suggest that targeting GluN2A might be a way to treat epilepsy-aphasia spectrum disorders.

The cause of most cases of epilepsy is unknown. Possible causes of the condition include birth defects, brain infections, brain tumors, stroke, brain injury, and some other diseases. This study suggests that careful molecular profiling of epilepsy patients is very important for personalized treatment.
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