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  • Anyone else have EDS, POTS, Dysautonomia and have mutations on MTRR?

    - 8 years, 8 months ago

    • KM3638  

       

      Look into thiamine. Specifically Dr. Derrick Lonsdale. Allithiamine and also lipothiamine with magnesium taurate to help with absorption. I take 4 allithiamine (200mg) + 2 lipothiamine (100 mg) with magnesium taurate. It has stopped my air hunger episodes and healed my wrist and thumb problems with pain so severe I guarded that hand until it atrophied. I couldn t use it at all. It still looks different from my other hand but I have 90%+ use of it now. I was referred to a rheumatologist for arthritis but did not want medications and can t take steroids anyway. So thankful I found Dr. Lonsdale and started with the more absorbable forms of thiamine. I initially started it for dysautonomia and energy having no idea it would heal my hand. Be aware of vitamin paradox and refeeding syndrome. Initially you may have an increase in symptoms such as pain. That is how I can tell it is working each time I increase the amount. The same happens with methylfolate and methylcobalamin and also vitamin D3. I am just starting glutathione. It has taken years for me to prepare my body to take it without feeling like I had the worst pain/flu ... More

      - 3 years, 11 months ago.  

    • Erin Marie mcdowell    1

       

      Yes, except the highly suspected EDS has not been clinically diagnosed. I have everything else documented. wwe.erinmariemcdowell.wordpress.com

      - 8 years, 6 months ago.  

    • AC6414    2

      Yes I do. I have MTRR A66G GG and I suffer from dysautonomia since I remember. I was assigning it to my SOD2 and SLC19A1. These are the mitochondrial mutations and I always though my mitochondrias are to be blamed. Not sure though. Many doctors have given up on me.

      - 8 years, 6 months ago.  

    • MW2967    1

      I have EDS, POTS and lots of Dysautonomia, and just found this in my report:

      Data for mtrr obtained from dbSNP shows alternate versions of alleles for this SNP on the FWD (plus) strand), are A/G.

      I'm new to this and not able to interpret the results, just letting you know in case it helps.

      - 8 years, 8 months ago.  

    • CK3915  

      I've been diagnosed with hypermobility and most Drs who I've connected the dots for them agree it's most likely EDS. I have a bunch of other problems too. I've read that most of the snps known are very helpful determining hypermobility EDS and the ones that verify vascular type are not tested for in kits like 23andme. There's a pretty good EDS support group at inspire. Lots of information about getting diagnosed and treatments for the various issues.

      - 8 years, 8 months ago.  

    • FO4547  

      If you type in the rs# in SNPedia, it will show you the magnitude (0 being no effect) and will show the risk alleles. For instance here is one associated with homocysteine and folic acid metabolism in the MTRR gene:
      http://snpedia.com/index.php/Rs1532268

      I am heterozygous for the risk allele, but so are about 30% of those with European ancestry. However if I was homozygous, then that would probably be an issue, so the symptoms seem to follow an autosomal recessive inheritance pattern.

      Jan

      - 8 years, 8 months ago.  

    • EA4649  

      No, I don't mean MTHFR, I'm well aware of those mutations. It was when I noticed The homozygous mutations on both MTR and MTRR and looked into it further and saw that they are linked to homocysinuria which - affects the connective tissue, central nervous system etc., that the penny dropped.

      - 8 years, 8 months ago.  

    • FO4547    1

      There's a group for people with the combination of several conditions including EDS, POTS and mast cell disorder. I don't know about MTRR mutations.
      https://uk.groups.yahoo.com/neo/groups/theelephantproject/info

      Jan

      - 8 years, 8 months ago.  

    • JC4544    1

      since you asked I decided to do a follow up. I ran the template on here that was made to see. I had one homozygous and a few heterozygous mutations. I have all those conditions you asked about. Then I went and made a template of the snp's NCBI deems potentially pathogenic and known to be pathogenic on the gene to compare the two templates. None of the harmful snp's are on that first template nor did I have any of those harmful ones on my test results (there are only two by the way on the gene to be pathogenic or likely). So all the red and yellow are currently unknown or benign snp's. Nothing to worry over.

      - 8 years, 8 months ago.