Genetic Links Found to Autism May Improve Diagnosis and Treatment

Autism has always been a mysterious disease with very few methods of treatment, but now there may be new clues. Researchers have found some genetic variations that are significantly more common in patients that have autism. This could improve diagnosis of the disease and offers the promise of developing new treatments for the frustratingly mysterious disorder.

The researchers' findings, published in the recent issue of Nature, compared the genomes of thousands of people that suffer from autism to those of the thousands of people that did not have the disorder, a massive task that new technology has only recently been made possible. They research studied the genome which is the complex system of DNA coding that builds and runs our bodies.

The review showed that most of the people that had autism had a genetic variation in a portion of their DNA which affects the way that the brain cells connect with each other. The researchers also reported a link between the disorder and small “mistakes” in another segment of DNA that is involved with cell communication. Both of the reports add weight to the idea that autism is related to problems in the way that the cells of the brain connect.

Hakon Hakronarson, who is the director of the Center for Applied Genomics at Children’s Hospital of Philadelphia, stated, “It is very exciting. It opens up the opportunity someday for new interventions to fix the bad consequences this variant has on brain function and development.”

Autism is a disorder that is marked by impaired language and the ability to interact. According to the federal Centers for Disease Control and Prevention, approximately 1 in 150 children in the United States are affected by Autism. Up until now, the medical community could say very little about what causes the disorder or how it could be treated. The lack of this scientific knowledge about autism has led to the proliferation of pseudoscientific explanation about the disorder, as well as many unproved treatments that are often very costly and can sometimes be unsafe.

However, this is not the first time geneticists have found a link between DNA and autism. For years, the researchers have known that changes in a particular gene can cause the symptoms of autism, which results in Fragile X Syndrome. They have also discovered extremely rare instances where a very small bit of DNA was missing or there were too may copies of another bit of DNA. These differences can help us understand how the changes in those regions of the genome can cause autism symptoms, but they have accounted for only a small fraction of the cases of autism.

By contrast, the new researcher is being considered a very big step, according to Tom Lehner, the chief of the Genomics Research Branch at the National Institute of Mental Health. “It opens up biology. With biology, you can find drug targets. Understanding the molecular networks, this is the big importance of these findings.”

One of the studies that was released on Tuesday found that approximately 65 percent of the participants with autism shared a genetic variation between cadherin 9 and cadherin 10, which is a region of the genome that controls cell-adhesion molecules in the brain. The figure for the study participants that did not have autism was approximately 60 percent, a difference that is statistically significant. Hakonarson said, “If we could remove this variant from the population, just take it away … as much as 15 percent of autism would disappear, which is highly significant.”

The second study conducted suggested that a link between the disorder and an excess of genetic material that is associated with ubiquitin,  which is a protein involved with cell-adhesion molecules and the connections between cells in the brain.

New of the researcher’s findings has excited other autism researchers. Laura Herzing, who researches genetic and autism at the Children’s Memorial Research Center at Northwestern University, stated that the ubiquitin findings dovetailed some of her own research. She also said, “It will directly affect what I am doing. Identification of pathways in this way lets us know that we should also be looking closely at other genes and proteins in those pathways as well.”

The researchers also warned against using these new findings to say, check you child’s genome for the sings of autism. The variations did show an increased risk but are not conclusive markers of autism.

The reports also do not explain the rising numbers of autism cases that are diagnosed. This increase could be occurring because of the heightened awareness of autism, because the definition of the disorder has expanded or because of other environmental factors. It could be some combination of all of these factors or something else entirely different.

Still, activists for autism are celebrating some good news for a disorder that has frustrated so many people for such a long time. Alison Singer, who is the president of the non-profit Autism Science Foundation and a mother of a child that suffers from autism, said, “Speaking as a parent, studies like this are a huge source of hope. They can lead to the development of safe, effective and novel treatments that enhance quality of life for children and adults with autism spectrum disorders.”