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News and Research: Apraxia Gene Mutation Discovered

Article: Speech- and language-linked FOXP2 mutation targets protein motors in striatal neurons

Published: May 2023, Journal Brain

Human speech and language are very complex, and scientists have discovered a gene mutation called FOXP2 in some people with speech problems. The details of how this mutation affects speech have been unclear.

Recent research using mouse models found that the FOXP2 mutation disrupts the workings of specific protein motors inside brain cells, leading to issues with cell growth and electrical activity. This disruption is linked to difficulties with vocalization. By reducing the level of a certain protein in mice with the FOXP2 mutation, researchers were able to improve their vocalization.

This study suggests that FOXP2 controls the formation of speech-related brain circuits by managing the balance of protein motors in certain brain cells, and that its disruption could contribute to speech disorders associated with the FOXP2 mutation.



One FOXP2 mutation linked to severe speech development disorders is rs121908378 (AncestryDNA) or i5003781 (23andMe v4). R328X