- Jul 26, 2010
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Summary: Research on gene mutation is teasing us with the idea that a substance called Neurexin may be the underlying cause of autism and perhaps even other conditions. Neurexin helps growing brain cells connect to each other. Discussion on Mar 23 1 pm.
Research on autism has been slowly accumulating momentum, by tiny little steps.
Today, I got a notification about a Neurexin panel discussion and checked it out. To my surprise I found the usually sedate community is getting very, very excited about this Neurexin deal.
Neurexin has a big job - a big part of getting nerve cells to connect normally in the developing fetus. In a fetus - well there are other mechanisms coming to light - but at least some of the nerve cells start out sitting on embryonic plates in bunches, and when they're grownn enough, they have to get to their destination by skittering along on little ladders called glia, turn, sit their butts down, get snugged into their correct spot, and start sending out connections to other nerve cells.
There are substances that nurse those nerve cells through every single step, and Neurexin is supposed to help them connect up to each other, once they arrive at their destination.
The reason researchers have been digging into this process is that there is something very odd about some of the nerve cells associated with autism and some other conditions.
They look, quite literally, like something interfered with that growth process. No scarring, no signs of infection, nothing, the nerve cells just look as if they didn't park and branch out properly. They've always known this happens very early in the life of the fetus, though as time's gone on they've learned more and more about how the brain grows in the fetus.
But how those cells look - it's frankly been a puzzle for a good long time, not so much that it exists, but WHY. I recall reading how the first images of those nerve cells brought stunned silence from researchers. 'What in the world....?'
And it appears that this isn't going to be just affecting Autism - but possibly schizophrenia and perhaps many other conditions.
Yes, it could be the underpinnings of a number of really-very-not-similar conditions. What they would have in common is that neurexin is getting clobbered so it can't do its job.
I don't know if anyone recalls my geeky excitement over CNV's - genetic mutations that are unique to one single individual. But researchers are finding an awful lot of CNV's on just specific areas - in autistic people. And the puzzling thing is that while it's not always the exact same mutation, there is a pattern, and at the bottom of it is this whole group of CNV's often found in Autistic and schizophrenic people, all these CNV's are hammering Neurexin's little world.
The discussion will be Mar 23 1pm EDT. It includes people doing some very advanced research on illness, disease and genetics.
http://www.schizophreniaforum.org/for/live/detail.asp?liveID=82
Here's the study that revved up the excitement:
http://www.ncbi.nlm.nih.gov/pubmed/21262241?dopt=Abstract
The thing is, that for these more complicated conditions like autism, it really is learning more about how the brain grows and matures, how very basic processes work - that's how we get to a treatment, a cure, a preventative who knows.
Perhaps in 20 years autism will be a thing of the past, I can only pray for that, knowing what it puts families through. I don't count out anything at this point. The sky's the limit. The hope is that once you find the exact little tiny defect that starts the whole process going wrong, that one little isolated piece of the puzzle, you - you correct the mistake. Once you know that, it isn't outrageous to envision a vaccine or a treatment that provides that missing molecule, protein or whatever.
It's ironic, in a way, that a group of youngsters and adults with a serious condition, could lead to some of the greatest progress toward understanding and protecting the neurological health of all or even a good many people. In any case I'm excited to see Neurexin stepping up to the plate.
Well I can't find the video of the nerve cell skittering along the glia - but it looks like a tennis ball running along inside an elongated tube sock, LOL!
Research on autism has been slowly accumulating momentum, by tiny little steps.
Today, I got a notification about a Neurexin panel discussion and checked it out. To my surprise I found the usually sedate community is getting very, very excited about this Neurexin deal.
Neurexin has a big job - a big part of getting nerve cells to connect normally in the developing fetus. In a fetus - well there are other mechanisms coming to light - but at least some of the nerve cells start out sitting on embryonic plates in bunches, and when they're grownn enough, they have to get to their destination by skittering along on little ladders called glia, turn, sit their butts down, get snugged into their correct spot, and start sending out connections to other nerve cells.
There are substances that nurse those nerve cells through every single step, and Neurexin is supposed to help them connect up to each other, once they arrive at their destination.
The reason researchers have been digging into this process is that there is something very odd about some of the nerve cells associated with autism and some other conditions.
They look, quite literally, like something interfered with that growth process. No scarring, no signs of infection, nothing, the nerve cells just look as if they didn't park and branch out properly. They've always known this happens very early in the life of the fetus, though as time's gone on they've learned more and more about how the brain grows in the fetus.
But how those cells look - it's frankly been a puzzle for a good long time, not so much that it exists, but WHY. I recall reading how the first images of those nerve cells brought stunned silence from researchers. 'What in the world....?'
And it appears that this isn't going to be just affecting Autism - but possibly schizophrenia and perhaps many other conditions.
Yes, it could be the underpinnings of a number of really-very-not-similar conditions. What they would have in common is that neurexin is getting clobbered so it can't do its job.
I don't know if anyone recalls my geeky excitement over CNV's - genetic mutations that are unique to one single individual. But researchers are finding an awful lot of CNV's on just specific areas - in autistic people. And the puzzling thing is that while it's not always the exact same mutation, there is a pattern, and at the bottom of it is this whole group of CNV's often found in Autistic and schizophrenic people, all these CNV's are hammering Neurexin's little world.
The discussion will be Mar 23 1pm EDT. It includes people doing some very advanced research on illness, disease and genetics.
http://www.schizophreniaforum.org/for/live/detail.asp?liveID=82
Here's the study that revved up the excitement:
http://www.ncbi.nlm.nih.gov/pubmed/21262241?dopt=Abstract
The thing is, that for these more complicated conditions like autism, it really is learning more about how the brain grows and matures, how very basic processes work - that's how we get to a treatment, a cure, a preventative who knows.
Perhaps in 20 years autism will be a thing of the past, I can only pray for that, knowing what it puts families through. I don't count out anything at this point. The sky's the limit. The hope is that once you find the exact little tiny defect that starts the whole process going wrong, that one little isolated piece of the puzzle, you - you correct the mistake. Once you know that, it isn't outrageous to envision a vaccine or a treatment that provides that missing molecule, protein or whatever.
It's ironic, in a way, that a group of youngsters and adults with a serious condition, could lead to some of the greatest progress toward understanding and protecting the neurological health of all or even a good many people. In any case I'm excited to see Neurexin stepping up to the plate.
Well I can't find the video of the nerve cell skittering along the glia - but it looks like a tennis ball running along inside an elongated tube sock, LOL!
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