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Autism genome project identifies genetic variants that may make people susceptible to disorder
Date:6/9/2010

rare CNVs small deletions or additions to the DNA sequence than those without the disorder. The researchers found that while some of these CNVs are inherited, others are new variations in individuals with autism. The specific consequences of each CNV aren't known, but in those with autism they may alter the function of those genes.

These CNVs are found in an estimated 1 percent of the population and could account for up to 3.3 percent of autism cases, according to the study. While that is a relatively small percentage, it represents many thousands of people with the disorder.

Along with the CNVs, the study also identified three new genes and the chromosomal locations (loci) of two other genes the researchers believe make individuals more susceptible to autism. These genes SHANK2, SYNGAP1, DLGAP2 and the DDX53PTCHD1 loci (on the X chromosome) belong to synaptic pathways that allow neurons to conduct electrical and chemical signals and are involved in cellular proliferation and intracellular signaling. Identifying these genes could aid in the search for new therapies to treat autism. But even if it proves possible to develop new drugs that target those genes, it will take many years to accomplish.


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Contact: Phil Sahm
phil.sahm@hysc.utah.edu
801-581-2517
University of Utah Health Sciences
Source:Eurekalert

Page: 1 2

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