PeterPositive
Senior Member
- Messages
- 1,426
Hi,
I have the C677T homozygous mutation.
While trying to make sense of low serum and red blood cell THF, even with continuous supplementation, I went back to my 23andMe results and identified the following homozygous SNPs:
MTHFS
causes higher activity and folate depletion:
http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFS&search=MTHFS
SLC19A1
reduced activity of folate transport proteins
http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC19A1&search=SLC19A1
TCN2
diminished capacity of B12 transport to the cells
http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCN2&search=TCN2
I don't see these mutations cited very often and I was wondering if they should be taken into consideration or not.
At the end of the day what counts is the actual state of active folate more than these SNPs, but I was trying to find possible causes for the problem.
cheers
I have the C677T homozygous mutation.
While trying to make sense of low serum and red blood cell THF, even with continuous supplementation, I went back to my 23andMe results and identified the following homozygous SNPs:
MTHFS
causes higher activity and folate depletion:
http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFS&search=MTHFS
SLC19A1
reduced activity of folate transport proteins
http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC19A1&search=SLC19A1
TCN2
diminished capacity of B12 transport to the cells
http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCN2&search=TCN2
I don't see these mutations cited very often and I was wondering if they should be taken into consideration or not.
At the end of the day what counts is the actual state of active folate more than these SNPs, but I was trying to find possible causes for the problem.
cheers