Momtezuma Tuatara
20-05-09, 02:53 PM
http://www.cbsnews.com/stories/2009/04/28/eveningnews/main4975659.shtml?source=search_story
Autism Studies Target Genetic Link
CBS Evening News: Gene Breakthrough May Provide Clues For Families With Autism
April 28, 2009
(CBS) 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."
Okay, now this is seriously misleading. I have read this research, because it fits in with my presentation to doctors.
I don't believe that the issue is the "gene" per se. After all, did the parents have the various mutations? In most cases, no. In one case, yes, and though the father had some issues which were on the outer fringes of ASD, he didn't fulfil the criteria... though if they go on shifting the goal posts of diagnostic criteria, I'm sure my obsession with this issue would qualify me!
It comes down to something we've talked about before, which are those things which can ALTER gene expression. those things which can result in copy number variations, which change the function.
it's no surprise that these genes are all involved in "synapsis exuberance" in the brain. This doesn't start until after birth, and once the baby is out in the wide world, so while there is a possibility you could inherit it, the most likely explanation, particularly where parents have none of the genes, or they have them, but don't have any autistic traits, is that autism is a process of methylation. Were is solely a gene, donated at birth, which didn't work, there would be no regression.
While I'm sure they would love to call it a "genetic disorder" ... it would be far more accurate to call it a gene expression disorder.
Here's a papers which has that as it's title: "Linkage, Association, and Gene-Expression Analyses identify CNTNAP2 as an Autism-Suscepttibility gene. PMID 18179893. The first six month of life are crucial, because gene expression in the brain is going at absolute break neck speed.
Anything that methylates the gene expression, or stops it working, stops the process or reverses it.
however, there isn't equal usage of the term "gene expression" so I suspect that there is no uninamity amongst scientists yet. :alien:
Autism Studies Target Genetic Link
CBS Evening News: Gene Breakthrough May Provide Clues For Families With Autism
April 28, 2009
(CBS) 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."
Okay, now this is seriously misleading. I have read this research, because it fits in with my presentation to doctors.
I don't believe that the issue is the "gene" per se. After all, did the parents have the various mutations? In most cases, no. In one case, yes, and though the father had some issues which were on the outer fringes of ASD, he didn't fulfil the criteria... though if they go on shifting the goal posts of diagnostic criteria, I'm sure my obsession with this issue would qualify me!
It comes down to something we've talked about before, which are those things which can ALTER gene expression. those things which can result in copy number variations, which change the function.
it's no surprise that these genes are all involved in "synapsis exuberance" in the brain. This doesn't start until after birth, and once the baby is out in the wide world, so while there is a possibility you could inherit it, the most likely explanation, particularly where parents have none of the genes, or they have them, but don't have any autistic traits, is that autism is a process of methylation. Were is solely a gene, donated at birth, which didn't work, there would be no regression.
While I'm sure they would love to call it a "genetic disorder" ... it would be far more accurate to call it a gene expression disorder.
Here's a papers which has that as it's title: "Linkage, Association, and Gene-Expression Analyses identify CNTNAP2 as an Autism-Suscepttibility gene. PMID 18179893. The first six month of life are crucial, because gene expression in the brain is going at absolute break neck speed.
Anything that methylates the gene expression, or stops it working, stops the process or reverses it.
however, there isn't equal usage of the term "gene expression" so I suspect that there is no uninamity amongst scientists yet. :alien: