Study showing genetic link to autism could expand treatment options

Lynn Griffith
Study showing genetic link to autism could expand treatment options
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A collaboration involving 13 institutions throughout the world has brought to light a new understanding in causes of autism.(1)  A July 3, 3014 publication in Cell Magazine introduces research that shows for the first time a genetic link.  (2)

CHD8 gene mutation provides strong link to one type of autism

Raphael Bernier is the lead author and UW associate professor in the Department of Psychiatry and Behavioral Sciences and the clinical director of the Autism Center at Seattle Children’s Hospital.  Bernier stated, “We finally got a clear cut case of an autism specific gene.”  Bernier explained that people who have a CHD8 gene mutation have a very “strong likelihood” that they will have a form of autism with symptoms such as gastrointestinal disorders, a large head and wide set eyes. (1,3)

In their study, researchers found 15 children who displayed the above symptoms and each of these children had a CHD8 mutation.(1)

To confirm these findings, scientists at Duke University who work with zebra fish modeling, disrupted that CHD8 gene in the fish.  Upon doing this, the fish developed large heads and wide set eyes.  When they fed the fish fluorescent pellets, they found that the fish struggled to discard their food waste and were suffering from constipation.(1)

CHD8 gene mutation could allow clinician to better serve parents and families

Bernier reported that this a first for the field of autism research.  To this point the diagnosis of autism has never been shown to have a definitive cause.  Bernier states that less than half a percent of all kids have this specific kind of autism that is linked to the CHD8 mutation but the implications of this study could be a ‘game changer.'(1)

The results could help start the path to a “genetics-first approach” that could help uncover additional genetic mutations and genetic testing.  Genetic testing could be offered to families and help prepare parents as to what to expect, how to prepare for their child and a potential future cure.   The diagnosis of autism is currently based on behaviors that are displayed in early childhood.  (1)

For short term treatment, these findings may help clinicians be more attentive to the population with CHD8 mutation and allow for targeted treatment.(1)

Sources for this article include:

(1) www.sciencedaily.com
(2) www.cell.com
(3) www.science20.com

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