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MUST SEE if you have an autoimmune or neurodegenerative condition. Our risk of thrombosis. Dr. Diana shares the results of her genetic tests from “23andme”. Does she have the MTHFR genetic defect?
The website http://geneticgenie.org/ can help you with interpreting the 23&me; results into a format that says which of these genes we’re interested in, and it helpfully colours the results red/yellow/green so we can see which ones are best/middle/worst! I offered my programming skills (such as they are!) to the guy so hopefully the rest of the site will be operational soon too.
I am also quite doubtful about whether this is very relevant to us – there’s definitely a potential but it seems to me like a fairly low probability thing to be trying. There have been so many people in the ME/CFS/Fibro communities focussing on this methylation stuff for years and years and admittedly without the gene testing part but most of them aren’t any better than they were when they started … so I remain fairly skeptical about whether it’s very helpful for many people.
On the other hand I have the most common mythylation defect being C667T homozygous, plus being homozygous for the MAO A and two COMT defects so there is a *potential* thing there for me. But yeah, I’m not actually going to do anything about it as yet … if it really is helping people, that’ll become clear pretty soon I figure.
So after watching this video, I went back to look at my 23andme results. It appears that I have the genetic defect of the MTHFR gene (at snp rs1801133, AA). I’m interested in why you thought that you and your family may of had this. What does it imply?
Interestingly, I started to read up on this gene a little bit a few weeks ago. In 23andme it is related to neural tube defects. Since I am currently trying to concieve this caught my eye.
I had the MTHFR results come back homozygous (C677T) so 2 copies. I just received an updated Drug Response result: Prothrombin G20210A (1 copy). Interestingly enough, this is the same mutation my uncle was found to have after a pulmonary embolism. I’m curious as to how these mutations may interact, if they do so, or if they both just have vascular implications, if that makes sense. The drug response report said to steer clear of estrogen supplements and oral contraceptives, which I don’t need, thankfully. I’ve been reading through the MTHFR posts from Marti and everyone who has gathered/explained information, and I’m so thankful this site exists. It’s impossible to make sense of these things individually – not to mention having EDS and a slew of fun issues with all that entails. Sigh.
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