Scientists from the Florida campus of The Scripps Research
Institute (TSRI) have shown that a single protein plays an oversized
role in intellectual and behavioral development.
The scientists found
that mutations in a single gene, which is known to cause intellectual
disability and increase the risk of developing autism spectrum disorder,
severely disrupts the organization of developing brain circuits during
early childhood. This study helps explain how genetic mutations can
cause profound cognitive and behavioral problems.
The genetic mutations that cause developmental disorders, such as
intellectual disability and autism spectrum disorder, commonly affect
synapses, the junctions between two nerve cells that are part of the
brain's complex electro-chemical signaling system. A substantial
percentage of children with severe intellectual and behavioral
impairments are believed to harbor single mutations in critical
neurodevelopmental genes. Until this study, however, it was unclear
precisely how pathogenic genetic mutations and synapse function were
related to the failure to develop normal intellect.
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