Autism-linked TBR1 gene in learning-related synaptic plasticity

Studies since 2010 have identified a large number of genes that, when mutated, cause autism. One can group the products of these mutated genes into two categories: proteins located at the synapses, or functional connections between nerve cells, and proteins located in the cell nucleus.

These two groups of proteins are also important for long-term memory. Yun-Beom Choi and his colleagues at Columbia University in New York believe that studying the role of these mutated proteins in long-term memory may help elucidate how their mutation leads to autism. The researchers plan to study a transcription factor in the mouse brain called T-box Brain 1 (TBR1), which is mutated in autism. Transcription factors are proteins in the nucleus that act as switches for turning on genetic programming.

TBR1 is important for the proper development of the brain before birth, but its role in synapse modification — a basis for learning and long-term memory after birth — has not been studied.

Choi and his group plan to investigate how reducing the level of TBR1 in the mouse amygdala affects the functional modification of synapses. The group chose to study TBR1 in the amygdala because it is a brain region involved in emotional memory and has been found to be abnormal in individuals with autism.