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Connection found between brain development and genomic variants in autism

Gai X. Mol Psychiatry. 2011;doi:10.1038/mp.2011.10.

A connection exists between genomic variants in autism and both synaptic function and neurotransmission, researchers at the Center for Biomedical Informatics at The Children’s Hospital of Philadelphia have found.

For this controlled cohort study, researchers compared the DNA of children with autism and their families (n=631 children; 1,162 parents) with that of healthy children (n=1,775) to determine the existence of genetic copy number variations (CNVs) in the genomes of those with autism, but not in the control group. CNVs are missing or repeated stretches of dozens or hundreds of bases in DNA sequence and have been implicated in other neuropsychiatric disorders, including schizophrenia, bipolar disorder and attention-deficit/hyperactivity disorder. Nearly 400 inherited CNVs in the autism group did not occur in the control group.

Researchers also analyzed a second cohort of children with autism and their families (n=593 children; 1,109 parents) and a second control group of children (n=2,026). There was another set of approximately 400 inherited CNVs exclusive to the autism group. No single gene was frequently disrupted in either set; only a few genes had CNVs in both sets. The CNVs detected tended to occur in genes affecting biological processes relevant to autism.

“While individually, CNVs are rare, each of them often appearing only in one family in our study, we found in this study that CNVs tend to occur in genes with similar functional roles — most especially in affecting synapse function, neurotransmission and brain development,” study researcher Peter S. White, PhD, a molecular geneticist, said in a press release. “This suggested to us that there may be many different — possibly even hundreds — of genetic paths to autism, with only a few gene alterations relevant to each individual patient. But if those hundreds of genes have similar roles in the nervous system, the end result may lead to the same diagnosis: an autism spectrum disorder.”

Disclosure: The researchers report no relevant financial disclosures.

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