Scientists have found out that mutations of the gene CHD8, located on chromosome 14, lead to impaired cognitive function and increased brain volume. Both these characteristics are seen in patients with autism.



CDC reports that 1 in 68 children in the USA are diagnosed with autism. This condition is 4½ times more common in boys than in girls. While the precise cause is unclear, it is believed that environmental and genetic factors play a role in its pathogenesis.

CHD8 gene encodes for a protein responsible for DNA packaging. People with one mutated copy of this gene show signs of autism. CHD8 gene mutations not only affect brain development, but also continue to affect brain functioning throughout the life. Scientists are trying to build an integrated model that links genetic control of brain development with behavior and brain function.

Source: Medical News Today
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