A Genetic Clue to Why Autism Affects Boys More

[AKA_Monet]

Well, based on what the OP is discussing, the variant CACNAG1 was done by screening 2000 families on an autism chip--basically a huge fishing experiment and might be a calcium ionophore. By the time they get the sequence they can make the genetically modified rodent model and do series of animal tests, like Barnes-Maze and Modified Water Maze, and make some determinations...

I suspect you have some epigenetic phenomena going on moreso in Autism because it is a cross-genetic spectrum disease, rather mono-genetic.

Calcium dysregulation is common in most mental illnesses and neurological illnesses. Last year in Science, they showed there was some effects with Bipolar on the regulation of calcium. However, calcium flux is so transient and removal of stores are under a steady state condition, actual detection of changes are not observed until there is pathology--i.e. that seen in muscle, including cardiac.

Adding EGTA or Thapsigargin in either a cell-based assay or rodent model through osmotic pump, might prove interesting... Functional changes to this gene to vary the variant, may show that either binding to Ca+2 has changed.

But, it looks like in neurons, you are pretty much taking about neural synapses, I guess some form of mitos might be there? IDK? I would have a better understanding if it was SER and muscle.

[ThetaPrincess24]

Originally Posted by VandalSquirrel

Do you think that it might have nothing to do with anything but being able to diagnose it more accurately and having more advances in "treatment" (by that I mean coping skills and what not) and other diagnostic methods? I'm thinking that it has always existed, but there wasn't a name for it as much knowledge as we have now, so it appears to be on the rise but potentially just wasn't diagnosed.

I hadnt thought of that but thinking back on other illnesses, I think this as a potential reason is quite valid!

[MysticCat]

Originally Posted by AOII Angel

People want answers. Unfortuntely, medicine doesn't have the answer to everything. I do understand that many don't trust researchers, but the only study that showed a link between vaccines and autism was fraudulent. I think that we will SLOWLY unravel what is going on here....maybe by figuring out the REAL diagnoses. Autism is like Cancer. It's a lumped together diagnosis that can have a zillion different causes, some genetic and some enviromental, as well as a zillion different treatments. Breast Cancer is different than pancreatic cancer or prostate cancer or brain cancer, etc. None of these are caused by the same gene or treated with the same regimen. Right now, there are too few cases to get much meaningful research. What people do need to understand about research is that no matter who is funding it, the people doing the actual research do WANT to figure out what is going on. There is no grand conspiracy to hide the cause of autism so that more kids can be "infected" by continued use of vaccines.
My main argument against just letting parents continue blaming vaccines is that it takes the focus away from finding out what is really behind this disorder.

AOII Angel, what you've said mirrors almost exactly how I -- with no medical credentials other than a brother who is an MD -- have looked at. I agree completely.

I tend to the think of it as a "perfect storm" scenario. My hunch is that there are genetic factors that make a person more likely to end up on the spectrum. Throw in the right combination of environmental factors early in life and the genetic factors are triggered. But with something as varied as autism, I don't think it's going to be one set of genetic factors or one set of environmental factors -- like your cancer comparison, I think it's much more compicated and varied than that.

I think that, as someone who, by virtue of my own family situation, interacts with more parents of kids on the spectrum than the average person might, I was just trying to reflect what I observe about why some parents hold onto the vaccine idea so strongly or are distrustful of what they might call the "establishment." Like I said, I don't agree with them, and I don't see what good is being done by their attitudes, but I can see how they got there. That's all.

[KSigkid]

Originally Posted by AOII Angel

People want answers. Unfortuntely, medicine doesn't have the answer to everything. I do understand that many don't trust researchers, but the only study that showed a link between vaccines and autism was fraudulent. I think that we will SLOWLY unravel what is going on here....maybe by figuring out the REAL diagnoses. Autism is like Cancer. It's a lumped together diagnosis that can have a zillion different causes, some genetic and some enviromental, as well as a zillion different treatments. Breast Cancer is different than pancreatic cancer or prostate cancer or brain cancer, etc. None of these are caused by the same gene or treated with the same regimen. Right now, there are too few cases to get much meaningful research. What people do need to understand about research is that no matter who is funding it, the people doing the actual research do WANT to figure out what is going on. There is no grand conspiracy to hide the cause of autism so that more kids can be "infected" by continued use of vaccines.
My main argument against just letting parents continue blaming vaccines is that it takes the focus away from finding out what is really behind this disorder.

Originally Posted by MysticCat

AOII Angel, what you've said mirrors almost exactly how I -- with no medical credentials other than a brother who is an MD -- have looked at. I agree completely.

I tend to the think of it as a "perfect storm" scenario. My hunch is that there are genetic factors that make a person more likely to end up on the spectrum. Throw in the right combination of environmental factors early in life and the genetic factors are triggered. But with something as varied as autism, I don't think it's going to be one set of genetic factors or one set of environmental factors -- like your cancer comparison, I think it's much more compicated and varied than that.

I think that, as someone who, by virtue of my own family situation, interacts with more parents of kids on the spectrum than the average person might, I was just trying to reflect what I observe about why some parents hold onto the vaccine idea so strongly or are distrustful of what they might call the "establishment." Like I said, I don't agree with them, and I don't see what good is being done by their attitudes, but I can see how they got there. That's all.

Both of these are largely in line with what I've heard from a family member who has a couple of decades of experience working with kids on the spectrum. The vaccination talk, at the end of the day, takes away from research that might actually help find some answers.

ETA: These days you have more experts on autism, more tools (like IEPs) that allow early identification and avoid lumping those on the spectrum with others who have more general learning/developmental disabilities, and in some districts, more of a support system in place to help parents. I think all of those factors help to explain why there are more cases being recognized.

[UGAalum94]

Originally Posted by KSigkid

Both of these are largely in line with what I've heard from a family member who has a couple of decades of experience working with kids on the spectrum. The vaccination talk, at the end of the day, takes away from research that might actually help find some answers.

And it leads to kids not getting vaccinated for some pretty serious illnesses.

[KSigkid]

Originally Posted by UGAalum94

And it leads to kids not getting vaccinated for some pretty serious illnesses.

Yeah, there's that as well...not sure how I forgot that aspect of it.

[moe.ron]

Originally Posted by AKA_Monet

Well, based on what the OP is discussing, the variant CACNAG1 was done by screening 2000 families on an autism chip--basically a huge fishing experiment and might be a calcium ionophore. By the time they get the sequence they can make the genetically modified rodent model and do series of animal tests, like Barnes-Maze and Modified Water Maze, and make some determinations...

I suspect you have some epigenetic phenomena going on moreso in Autism because it is a cross-genetic spectrum disease, rather mono-genetic.

Calcium dysregulation is common in most mental illnesses and neurological illnesses. Last year in Science, they showed there was some effects with Bipolar on the regulation of calcium. However, calcium flux is so transient and removal of stores are under a steady state condition, actual detection of changes are not observed until there is pathology--i.e. that seen in muscle, including cardiac.

Adding EGTA or Thapsigargin in either a cell-based assay or rodent model through osmotic pump, might prove interesting... Functional changes to this gene to vary the variant, may show that either binding to Ca+2 has changed.

But, it looks like in neurons, you are pretty much taking about neural synapses, I guess some form of mitos might be there? IDK? I would have a better understanding if it was SER and muscle.

Wow, I have no idea what you're talking about, but I feel very smart just reading it.