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MTHFR Gene Defect Survey of ME patients

ME patients: Do you have a defective methylenetetrahydrofolate reductase gene (determined by test)?


  • Total voters
    21
  • Poll closed .

SWAlexander

Senior Member
Messages
1,897

SWAlexander

Senior Member
Messages
1,897
I certainly don't have the C677T mutation, but there is a huge chunk of the MTHFR gene missing despite the 30x sequencing. So I don't really know if it's a deletion or a gap. I don't think it's a deletion though, because it's just too large of a piece. I guess something affected the MTHFR in both saliva samples.

example:
rs1801131(C;C) Number of risks. Complex. MTHFR rs1801131 is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Unlike MTHFR C677T, this mutation does not lead to elevated homocysteine levels.
 

nerd

Senior Member
Messages
863
example:
rs1801131(C;C) Number of risks. Complex. MTHFR rs1801131 is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Unlike MTHFR C677T, this mutation does not lead to elevated homocysteine levels.

This one was covered by 23andme v3 and an older AncestryDNA test, so I don't have to rely on the FGS from Nebula. I'm (A;A).
 

SWAlexander

Senior Member
Messages
1,897
This one was covered by 23andme v3 and an older AncestryDNA test, so I don't have to rely on the FGS from Nebula. I'm (A;A).

I see. I had a second DNA in Jan. 2021 (first in 2009) and I discovered quite a few changes.
Either more methylation or new science results.