Einstein Syndrome: Down Syndrome with a Positive Attitude

Hey, Miriam, you said you had more about that research on antioxidants in Down syndrome. Well?

Yes, I do have some more to explain. I want to talk about folinic acid.

Is that like the folic acid that is in most vitamin pills?

It is a close relative of folic acid. Folinic acid directly feeds DNA synthesis and bypasses the folate cycle.

You are already starting to go all biochemical on me. This better be related to that research study or I’m leaving!

Sorry… and it is. One arm of the study supplemented folinic acid to the babies with DS. Some kids got just folinic, and some got folinic and the antioxidants. So, to understand my concern relating to folinic, I need to talk biochemistry for just a minute.

Ok, only if it’s short. Let’s start with you explaining why they studied folinic acid in DS.

It has to do with the way that triplicated 21st chromosome messes up the folate cycle in Down syndrome. You can find a fairly good explanation here, or here, as well as here. On that last link you mostly want slides 10-15.

Wait, you said this would be short!

It will be. You don’t have to go to those sites unless you want the complicated explanation with charts and arrows. Here’s the simple explanation: In order for a baby to grow, cells need to divide. Each time a cell divides, the DNA in the cell needs to be copied to make new chromosomes for the daughter cells. Making new DNA requires folate.

And the folate cycle is messed up in Down syndrome?

Yes.

But they didn’t supplement folate in that study. They supplemented folinic acid.

Right. Folinic acid bypasses the messed up folate cycle and feeds directly into DNA synthesis. The expected result of normalizing DNA synthesis in DS babies would be normalizing growth.

And apparently it didn’t work. The headlines say that supplements in Down syndrome are a waste of cash.

But wait! We don’t know that the folinic acid didn’t work. Nothing in the published study reports on growth or weight of the babies.

You mean that the one result which might be expected, growth, was not even reported on?

Right. I find this disconcerting. One of the charities which cosponsored this research, the DSRF, expected that growth would be measured and reported on. (Look here, and click over to slide 19.) It wasn’t. Why not? Without this data, it is difficult to understand how any useful conclusions about folinic acid can be drawn at all.

So, what exactly did they prove about folinic acid supplements?

If you give folinic acid to babies with DS, and don’t measure their resulting growth, then there is no way to know if the folinic acid worked.

Can we wait on any more of your comments? I want to go look at those links about folate. Let’s pick up this discussion again soon.

Ok, see you later.

UPDATE: Waste of Cash! part 3 is here. Part 4 on long term negative outcomes is here,