Nature or Nuture? Cmu and Pitt Researchers Are Defining the Complex Role of Genetics and New Genes in Autism

By Templeton, David | Pittsburgh Post-Gazette (Pittsburgh, PA), November 4, 2014 | Go to article overview

Nature or Nuture? Cmu and Pitt Researchers Are Defining the Complex Role of Genetics and New Genes in Autism


Templeton, David, Pittsburgh Post-Gazette (Pittsburgh, PA)


In the sometimes angry debate about whether genes or environment cause autism spectrum disorder, science implicates both.

Even Tom Insel, director of the National Institute of Mental Health, rhetorically asked whether autism is genetic or environmental. As far back as 2012 he answered it, noting that "studies suggest it can be both," while foreseeing the long journey to determine the "many causes for autism and many roads to find them."

Two recent studies involving top Pittsburgh researchers have taken strides in that journey by explaining the complex but substantial role of genetics in autism. Both studies emphasize the predominant role of genetics but also can explain mechanisms by which environmental exposures can affect risk, either by inducing genetic mutations that can contribute to autism or mimicking the effect of mutations.

One study published last week in Nature, involving Kathryn Roeder of Carnegie Mellon University and Bernie Devlin of the University of Pittsburgh School of Medicine, expands the number of genes directly associated with autism from nine to 33. It also found another 74 genes that seem likely to be involved.

A rare mutation in any one of these genes, based on large-scale statistical analysis the Pittsburgh team did, can disrupt typical formation of nerve networks or the function of synapses - the structures at the ends of brain cells or neurons that allow cells to communicate with each other.

It complements findings of their study published July 20 in Nature Genetics, led by Ms. Roeder and also including Mr. Devlin, who are married. That international research team determined that "most of the genetic risk for autism comes from versions of genes that are common in the population," rather than rare, spontaneous genetic glitches that occur in the 33 newly discovered genes.

"This makes sense because typical development of brain cells requires intricate coordination of thousands of genes and appropriate communication between cells to ensure development of the brain - the most complicated organ in the human body," said Ms. Roeder, a professor in CMU's Department of Statistics and the Lane Center for Computational Biology. She is considered a leading expert in statistical genomics and the genetic basis of complex disease.

Understanding the role of genes, individually and cumulatively, is necessary to resolve the mysteries of autism.

As it turns out, all humans have variations in common genes, which they inherit from their parents. In certain genes, such variants could affect the development of neurons and synapses, and thus brain function and social ability. But each common variant produces only a modest impact, said Mr. Devlin, a medical school professor of psychiatry. However, if a child inherits a large number of these common variants, he or she could develop autism.

But another genetic process in autism involves the fetus having what is known as a "de novo" variant. These involve new variations that occur in those 33 newly discovered genes, and possibly the total 107 genes, but were not present in either parent. These variants "have substantial impact on the risk of developing autism," Mr. Devlin said.

Even though neither parent has the de novo mutation, which means it is not inherited, it arises in the sperm cell four times more often than the egg, probably due to the many cell divisions that sperm cells undergo. …

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