OK.
So as
Kev blogged about this morning, they figured out how to cure (or as the paper put it "rescue"/reverse) Rett Syndrome in mouse models.
At least one specific mouse model.
This specific mouse model isn't particularly like humans with Rett, in that the investigators designed the mice to be able to produce healthy MECP2 protein and then shut it off--BUT--here's the extra special tricky part--they would be able to turn it back on at any time, using injections of an estrogen regulator (estrogen, girls, girls get Rett...and I swear no hormone is sacred in autism research).
HUMANS with Rett don't have that happy little out. They have what is called X inactivation, with one healthy copy and one not so healthy copy of the gene per cell, along with a bunch of other genes on their X chromosomes, and whichever one is on...is on. And that's life. This is also why VERY few boys with Rett live, mostly those with XXY karyotypes. But back to the study.
So they have these genetically engineered mice who have a Rett phenotype but the genotype is kind of a cheat. Then they first inject them with bigass doses of tamoxifen. Oops. Half the mice DIE. Shock to the system. You just cannot take a body, a brain, that worked one way for however long-in the case of the mice, around 4-6 weeks, life expectancy of 11 weeks, and then suddenly fill it with a protein that works TOTALLY DIFFERENTLY and expect it, like, not to cause massive problems.
Wait. Autistic people have been saying something awfully similar for years. I think those dead mice (9/17) just proved it, didn't they? Poor mice. I'd have kept an autistic or Rett mouse.
But back to the study. They tried again. This time they gradually increased the tamoxifen dose. Fewer fatalities, but some still died (and I do not have the number in front of me, no). The ones who were "rescued"-and yes, I find that word insulting-appeared normal, insofar as a Rett mouse can appear normal-no hindlimb clasping, movement was better, not as listless, less obesity-not a feature of human Rett syndrome. There was no mention of 'autistic behavior' or seizure activity, which are the symptoms that at least start out as most distressing to parents and people with the condition, respectively. For those who do not understand, it bothers little Hailey's mother that she doesn't look at her. It bothers little Hailey that she has seizures, which likely also distress her mommy but not as much as the whole acting autistic thing because of the 24/7 nature of being autistic. Of course people vary. Respiratory patterns in the mice also improved, as did their lifespan.
Now.
Repeat after me.
Mice.
Are.
Not.
Human.
It's all very well and good to find ways to decrease apraxia and the whole forgetting to breathe thing. Somehow I doubt that messing with estrogen is the way to do it, seeing as we aren't genetically engineered humans. No, this won't help your autistic kid be NT, especially if your autistic kid has no MECP2 abnormalities. Sorry, but it won't "rescue" your girl with Rett either.
The point of this study was to see if Rett was a condition with a point of no return, from which there is no restoring of functions like purposful movement. The answer is no. It didn't say HOW to restore such things in humans, merely that the brain cells ain't dead yet. They aren't even damaged, particularly, just prevented from doing their Thing.
This was not a cure of anything resembling an autism spectrum condition as found in nature.
This was in a setting in a lab, very controlled, and is light years away from human application.
Trying this on any kid at this stage in the game would be crazy. Yes, crazy."
I agree with her.