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6h ago

Study Points to GRIN2A Loss-of-Function as First Single-Gene Cause of Early-Onset Mental Illness

Researchers link GRIN2A loss-of-function to sharply elevated childhood psychiatric risk, pointing to reduced NMDA receptor activity.

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In a landmark study, scientists have made a huge breakthrough in mental health
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Overview

  • In an international cohort, 23 of 84 people with GRIN2A null variants (27.4%) had a diagnosed mental illness compared with two of 37 missense carriers.
  • Population comparisons to Finland’s FinRegistry suggest outsized risks in childhood, including roughly 87 times higher odds of psychotic disorder and six times for anxiety by age 12, and about 12 times for mood disorder by age 11.
  • Functional assays indicate that GRIN2A loss-of-function dampens NMDA receptor signaling via the GluN2A subunit, offering a plausible biological mechanism.
  • Psychiatric symptoms often appeared in childhood or adolescence, and some affected individuals had no history of epilepsy, intellectual disability, or speech disorder.
  • A small, uncontrolled use of high-dose L-serine in four people was associated with symptom improvements, and the authors emphasize that randomized, prospective trials are needed to test efficacy.