Autism Studies Target Genetic Link

When Susan Murray discovered she was expecting her third son, her joy was overshadowed by her fear.

"Worry has been there since the first moment," Murray said.

That worry: having another son with autism. Sixteen-year-old Owen was just 18 months, Tighe's age now, when his parents received the diagnosis that changed their lives.

"I remember watching Owen change," said Kevin Murray, Owen's father. "He's walking on his toes and moving his hands in a strange way and shrieking."

Today, a breakthrough discovery may offer answers for families like the Murrays. Three new studies involving nearly 11,000 families showed the strongest genetic link to autism yet - a gene mutation present in two-thirds of kids with autism, reports CBS News medical correspondent Dr. Jennifer Ashton.

"This mutation is present in nearly 65 percent of children who have autism," said Dr. Hakon Hakonarson, said a study leader and director of the Center for Applied Genomics at Children's Hospital of Philadelphia.

Using the world's largest DNA database, researchers discovered a defect that disrupts synapses - the way brain cells communicate with each other.

"Language, our gestures, our facial expressions - if the synapses between brain cells are not functioning properly, it's difficult to carry out those complex social behaviors," said Dr. Geraldine Dawson, the chief science officer of Autism Speaks, a science and advocacy organization.

These studies offer families more hope for better diagnosis and early intervention, and are a step toward new treatment.

"We have children who will have children, and clearly that is a very important piece of the puzzle," said Kevin Murray.

It's important to remember that many factors cause autism, and often there is an environmental trigger as well, so this is just one piece of the puzzle, but it's a big one, Ashton said.

CBS News anchor Katie Couric asked Ashton if researchers are optimistic that the discovery of this gene defect will actually lead to treatment in the future.

"They are, the first step was finding the problem," Ashton said. "Once they found it, then they can boost this protein in the future. And while we need to use caution - this is probably five to ten years away - it's very exciting."

[RAJ088]

It is sad to see Katie Couric and Dr. Ashton acting like potted plants and serving as an echo chamber for the hyper exaggerated claims about the study. Dr. Hakonarson has been making the rounds of network news shows making the same exaggerated claims about the meaning, if any, of the study. He has claimed in the press that if we could just eliminate this genetic variant 15% of autism cases would just disappear. Others in the scientific community who have looked at the study, have dismissed the importance of the study, and are appalled at the exaggerated claims being made by Dr, Hakonarson. Nowhere in the segment did Dr. Ashton note that while 65% of autistic children have this minor genetic variant so to does 60% of the entire general population. The odds are that Katie Couric and Dr. Ashton also possess this genetic mutation.

http://www.newscientist.com/article/dn17041-gene-variant-found-in-65-of-autism-cases.html

Katie Couric and Dr. Ashton would better serve their viewers, not to mention parents of autistic children if they employ actual journalistic integrity in reports like this.

[lloydbest1]

"PARENTS WHO SMOKED POT OR DRANK ALCOHOL/DRUGS DURING CONCEPTION IS THE MAIN REASON FOR AUTISM" Posted by mrkjessup1 at 10:30 PM : Apr 28, 2009

Fine....Now explain Thomas Edison. Explain Joan of Arc. Explain Bill Gates. Explain (France's) Charles III. Explain Temple Grandin.......Explain me.
None of our parents did any of those things.

[snoopy28173]

My 4 year old nephew is Autistic, so this struck a cord with me, my nephew's parents, my parents, and my brother in law's parents. I wish people would stop pointing fingers and blameing people and other things, and look at the big picture. I wish there was a cure.

[allnone1]

It's ignorant people like mrkjessup1 who make inadequate and condescending statements such as - PARENTS WHO SMOKED POT OR DRANK ALCOHOL/DRUGS DURING CONCEPTION IS THE MAIN REASON FOR AUTISM.

Condescending assertions are the cause of STUPIDITY! Do me a favor, next time leave the comments to yourself. As the parent of a Autistic child who does not smoke pot or drink alchohol now or during my pregnancy, knows that it's completely genetic and unrelated to bad habits.

[electrocution]

Utilities all across North America are using the earth to return their current back to the substation. Third World Countries know better. You do not need to get a shock for this current to be flowing through our bodies. This current on It's way back to the substation is flowing through our homes, schools, playgrounds, places of employment, etc. Utility in St Louis recent found guilty of killing teenager after becoming immobilized when diving into a lake. This can happen to anyone anywhere in North America. Utilities are spending a lot of money keeping their poorly designed electrical distribution system a secret. Please see Electrocution of America.

[lucasnico]

The doctor (was it Dr. Ashton) who presented the case said in closing this story that there 'many causes of autism' and that there were 'environmental factors that cause autism". I am wondering if the doctor could site any research studies that have proven that a specific environmental factor that causes autism, as I know of no such study. I think such statements are really frightening to parents and misleading taken as presented.
Posted by ccarterbarnes at 6:39 PM : Apr 28, 2009

believe he is pointing to environmental triggers, not necessarily causes........possible triggers which have been studied such as food preservatives, mercury in vaccines, wheat, gluten, casein, dairy.....

[ccarterbarnes]

The doctor (was it Dr. Ashton) who presented the case said in closing this story that there 'many causes of autism' and that there were 'environmental factors that cause autism". I am wondering if the doctor could site any research studies that have proven that a specific environmental factor that causes autism, as I know of no such study. I think such statements are really frightening to parents and misleading taken as presented.