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.

[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.