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Posted

Hi - our dd8 is a compound heterozygote for the MTHFR gene (2 polymnorphisms on one gene but on two different bits C677T and A128C). We just got back testing on our ds4 who also has the polymorphism but this time he's a homozygote 677CC I believe.

 

These polymorphisms mean that the methylation cycle happens at less than optimal capacity and that can amongst many other things raise your homocysteine levels.

 

Our very savvy PANDAS ped who now has 90+ PANDAS kids under her wing, thinks that the methylation cycle is fundamental to these kids' illness. With this in mind, here's some articles I found re elevated homocysteine and it's effect on the BBB.

 

One of the articles cites a significant increase in permeability with increased homocysteine.

 

http://bloodjournal.hematologylibrary.org/content/107/2/591.full

 

http://ajpheart.physiology.org/content/290/3/H1206.full

 

http://www.homocysteine-panel.org/website_en/publikationen2.php?pmid=21705496

 

theres more out there too.. this was just a quick search.

 

Might be interesting to check my kids' plasma homocysteine numbers and see if we can correlate to symptoms.

Posted

Hi Momwith.. there's also a link between homocysteine and the NMDAr. Don't undertsnad it yet but it's all very inter-related. The drug mentioned in the last article I linked from 2011, memantine, is used for Alzheimer's Disease (AD) patients because of it's benefit at the NMDAr and reducing excitotoxicity believed to be due to glutamate but also has that cool effect on the BBB. But the link between homocysteine and AD and dementia in general is thought to be due to both the effect that homocysteine has on the vasculature and also it's effect on glutamate.

 

http://www.nejm.org/doi/full/10.1056/NEJM200308073490616

 

Liked this article too

 

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC20882/

Posted

Thanks for all the links. I bought Amy Yasko's book "Autism: Pathways to Recovery" and forked over the extra $5 for her DVDs. The book was only moderately helpful, as we can never afford to do her full program. But the DVDs have blown me away. She touches on everything we've experienced in the past 3 years. Everything. I cannot recommend these DVDs enough. They have changed the way I look at the problem and given me new ideas for moving forward. It is the best $55 I've spent in a very long time. (you can get the book from amazon but need to order from her site in order to get the accompanying DVDs).

 

Your links are also helpful, as heart disease and macular degeneration and diabetes all effect my side of the family. Thanks again!

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