Thi sis how I picture the GABAergic and glutamergic cycles affecting Dup15q kids. It’s highly hypothetical and I’m not a scientist. But this is a blog I’ve made with the intention of getting the goat of real scientists so they’ll prove or disprove me… 😀
(Edit, January 31, 2016. I am not sure if having extra glutamine in the cells affects free glutamine outside the cell. One of the parents commented on a different source that their kid had normal glutamine and it was confusing to them as glutamine overload was such an expectation of an autistic child. If my understanding is correct, it’s only going to be higher because of GABA; and only in the cells where extra GABA has flooded through on those myriad extra GABA-A receptors our kids have. The work of Yehezkiel Ben-Ari in France shows that kids who have intractible seizures extra chloride inside the cells- our kids definitely tend towards that kind of seizure, and chloride piggybacks into cells alongside the GABA-turned-Glutamic. He sees improvements in tiny clinical trials of drugs that flush chloride out of the cells- and effectively, leaving less to transport GABA through the nerves, as well. Makes an interesting theory, to me, of what goes on in our kids)
So, if this only goes on inside the nerve cells themselves, SOME of the metabolic changes of dup15q would only be visible in, say, a nerve cell biopsy. Excitingly enough, this is the kind of biopsy that Dr. Reiter is working on, with nerve cells derived from lost baby teeth, at the Memphis clinic. It wouldn’t be likely, in my mind, to show up in the blood, or even spinal fluid, because it would be specific to what is going on inside the nerve cells themselves– something we would rather hope we weren’t getting samples of in a spinal tap!!)
Imagine that a cell is a box and the gaba receptors are kids tossing legos into the box… they transport the legos into the box or wherever. And they do it a specific way. There are lots of legos, but every time a blue square lego is connected to a yellow square lego, that’s gaba. So they yank the yellow part off and toss in the blue. The blue by itself is glutamine. Then you have a bunch of kids in the box trying to put yellow blocks back on the blue blocks and tossing them back out. It only works if you have enough kids inside the block to make up for the kids tossing in blue blocks. Then imagine someone dumps a big bucket of blue blocks in– gluten, glutamine– and the kids in the box work even harder. And then you have a bunch of extra kids outside the box because of Dup- and so you get even more blue blocks. And then imagine that there’s someone running around inside the box taping together the hands of the kids inside the blocks becuase our detox enzymes that make it possible to move the glutamine back out is on the same part of 15q too. This makes it very hard for doctors to sort out where to start treating Dup. . BUt it makes NAC a great place to start. It takes the tape off the kids’ hands. Gluten free and low glutamine diets keep the dumping bucket away, and there are also ways to slow down GABA. But that’s only one component of Dup. It does make me very hopeful.