18 November 2015
The subtle mutations that occur in developing brains and can lead to conditions such as autism spectrum disorder, Rett and Down’s syndrome have been identified by researchers at the University of Utah.
The changes are caused by a gene called Kirrel3, which is needed to form the structure called the mossy fibre synapse, which is located in the hippocampus. The mossy fibre synapse is essential for learning and memory.
In laboratory tests, the mossy fibre synapse is unable to form properly when Kirrel3 is not present, or when a number of variants are substituted. Synapses serve as communication superhighways for the brain, and it is much harder to coordinate actions that require several parts of the brain to work in tandem when they are damaged or dysfunctional.
Lead researcher Megan Williams said: "In addition to being in the hippocampus, the gene is also expressed in other parts of the brain. It is possible that defects in those regions may also contribute to the neurodevelopmental disorders associated with Kirrel3."
Posted by Philip Briggs
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