Getting to the "Cause" (or some clues) about Autism


9 Years
Jul 26, 2010
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.

Here's the study that revved up the excitement:

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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Interesting stuff.. thanks for sharing.
Wow, thanks so much for posting that!

My eldest has autism and my youngest son was just diagnosed. The last few weeks have been a whirlwind of research for me, but I haven't happened upon this one yet. I always grateful for any verifiable information that helps me understand what I'm dealing with and how best to help my kids.

If CNVs truly are an underlying cause of autism, our family definitely falls into the de novo mutation category.

The good news in all this, is we making great progress with cognitive therapy techniques. I really think my eldest will be able to go to college and be independent. My youngest though, has it pretty bad, he may be my special treasure the rest of our lives.
You are sure right about that, and I love what you wrote.

There's a saying often told to parents of autistic children, along the lines of 'The good Lord wouldn't give you this unless he knew you could handle it'....and the usual answer is, 'OH.....I don't know that I'm so sure of that....' and then they just do it. God bless every one of you and keep you strong and marching ahead, full of love and energy and fierce determination.

I truly believe that most of the people who go into autism research do it because of the families.
That is great news! I hope they find out the cause and how to correct it with their ongoing research. Sounds like they may be on the right track.
We may find that there are different gaps in the process in different forms of autism, new knowledge often shows us we have another layer of complexity to dig through.

I just get so excited whenever that dang big old heavy door between us and that knowledge, just creaks open even a quarter of an inch....there's so many people pushing on it and it is ONE STUBBORN DOOR!
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Lots of things to think about as we imagine about the future. I think the end of autism would be greeted with a very strange mixture of sadness and joy...the memory of the struggle for a diagnosis, the first shock and dismay and the unexpected inner resources people pull from, the incredible effort it calls from the depths of so many people - the overworked bewildered teacher with the crowded classroom, the parents, brothers, sisters, relatives, every health care provider, friends. The people we love who are so unique, who we work so hard to help and to understand and to enjoy and give them a good quality of life.

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