Gene mutations?

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MizzDeeDee

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When I first became ill, I was sent to Georgetown University for a consult with the Chief of Rheumatology. He tested me for several things, among them, gene mutations. He explained to me that I had the MTHFR gene mutation. Only one of the genes was mutated, but he went on to tell me that people with this gene mutation tend to have neurological problems. Before this consultation, I had never heard of such a thing. Apparently, this MTHFR gene can cause a lot of problems, especially if both of the MTHFR genes are mutated.

Has anyone else had any gene testing? Did you have any gene mutations as I do? I wonder if this gene mutation is linked to fibro too. I know it's linked to autoimmune issues.
 

katydid

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Is that a mitochondrial myopathy issue? Mitochondrial myopathy runs in my family and I'm trying to get In to see a specialist about it.....
 

MizzDeeDee

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Is that a mitochondrial myopathy issue? Mitochondrial myopathy runs in my family and I'm trying to get In to see a specialist about it.....

MTHFR Mutation: A Missing Piece in the Chronic Disease Puzzle

No, I don't think so. I believe it's a DNA gene that converts a important amino acid in our bodies. That's the best way I can think to describe it. If you read this link, you'll see that it effects neurotransmitters. It really can cause a lot of health issues.

You have two of these genes, so if you have one gene mutation it isn't as bad, but if you have two it's apparently really bad news. That being said, even with just one mutation, it gives you a predisposition for many health issues. Like I posted before, Georgetown University explained that it means that me just having the one gene mutation increases the prevalence of neurological issues.

That's why I was curious if anyone else had this mutation. I wonder if there is a correlation.
 

rlpand2

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Hi,

I, too, have the MTHFR gene mutation, I have 2 copies-compound heterozygous for the mutations, C677T and A1298C. The mutation can cause all manner of problems. My doc recommended B12 shots and Deplin (a medical food that is a more bioavailable form of folate). A good site to look at is **** lots of useful information.
 
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