Genetic Mutation May Have Strong Link to Autism

Researchers have recently discovered what may be a contributor to the development of autism disorders. Raphael Bernier, UW associate professor in the Department of Psychiatry and Behavioral Sciences, clinical director of the Autism Center at Seattle Children’s, and lead author of this recent study, states, “”We finally got a clear cut case of an autism specific gene”. Bernier and his colleagues, in collaboration with 13 other institutions, have stated that CHD8 gene mutations can lead to autism development.

This study focused on over 6,000 children on the autism spectrum, and discovered that 15 of these children had CHD8 mutations. Furthermore, the cases had similar characteristics in appearance, similar patterns in sleep disturbance, and gastrointestinal issues.

To further study CHD8, Bernier and his team conducted zebra fish modeling. The researchers disrupted the CHD8 gene in the fish, resulting in the fish developing large heads and wide set eyes. They then fed the fish fluorescent pellets to view the process, and found that the fish had problems discarding food waste.

According to Bernier, this is the first time that researchers have shown a definitive cause of autism via genetic mutation. Although only a small amount of children from the study were shown to have a CHD8 mutation, “”This will be a game changer in the way scientists are researching autism”, he states. The results can lead to a genetics-first approach, which leads scientists to uncover other possible genetic mutations. Genetic testing could be very beneficial for families to understand what exactly is going on in the bodies of their child, and how to properly care for them. Clinicians can pay attention to the small population with this CHD8 mutation and provide targeted treatment. The CHD8 gene mutation is the first gene mutation to show a very strong link to a certain subtype of autism.

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