Hello, I hope it's all right to post as I don't have a diagnosis of PA, but my maternal grandmother died from it aged 40 in the 1920s. I am fortunate to have normal B12 levels but I have low folate, and a test revealed that I have the gene for problems with processing folate - is there a link between this and PA? I am wondering if I have inherited this from my grandmother? Does it mean I might develop PA when I am older (I'm 55 now)?
Many thanks.
no one has established a direct link.
No-one is sure what genes are involved in the development of PA anyway though there does seem to be a genetic component as it does tend to run in families.
Let me guess, your gene that has problems is called MTHFR.
There is a lot of rubbish written about this gene on the Interwebs. This is what the genetic testing company 23AndMe said about it...
Our Take on The MTHFR Gene," is a 23andMe blog posting (January 5, 2017), a meta-analysis finding that the past two decades of scientific evidence as it relates to specific MTHFR-influenced health conditions to be inconclusive or conflicting, with two exceptions, 1. women with two copies of C677T variant, 2. a very rare variant that may cause homocystinuria. Their takeaway, "Based on the existing data, scientists at 23andMe have concluded that people should not interpret their genotypes at the common MTHFR variants as having an effect on their health."
The mutation they mention - two copies (homozygous) of C677T - is present in about 9% of people. Most of whom suffer no ill effects whatsoever. Other mutations are even more common. Indeed, only about 4 people in a thousand have no mutations in that gene.
The MTHFR gene codes for an enzyme (also called MTHFR) that is involved in the conversion of one type of folate into another. It doesn't affect absorption of folate. And it has nothing to do with PA
The test for serum folate looks at all the different types in your blood. People with that specific mutation still have lots of total folate in their blood - but there may be an imbalance of the different types.
Your folate is low either because you don't eat enough of it (lots of leafy green veg) or your body isn't very good at absorbing it (or both). You can fix the problem either way by taking folic acid supplements. 400 mcg a day should be plenty.
If you do have the homozygous C677T mutation then you may want to supplement with methyl folate instead (that's the type produced by the MTHFR enzyme). It's a bit more expensive but there's a possibility it may be better than folic acid in the long term.
When looking at web sites about MTHFR there’s a simple check to see if they know what they’re talking about. If they recommend taking methylcobalamin rather than any other type of B12 then avoid them. They are talking rubbish. See here for an explanation healthunlocked.com/pasoc/po...
I see from previous posts Jinnie that you also have Hashimoto's thyroid disease - 40% of those with Hashi's go on to develop PA/12def. especially if prone to gastric issues (sometimes silent), which make it harder to absorb B12 and other essential nutrients.
B12 is primordial molecule we cannot do without and involved with building DNA. We have five in our family with autoimmune disease, three with Hashimoto's and B12def.
You might find this a very helpful link re. the connection between the MTHFR gene and Hashimoto's/B12def. etc.
Bittersweet Bonds - Pernicious Anemia and the Doctor-Patient Dance
seeing neurologist, advice on b12 injections welcomed…
Has anyone had insomnia from B12 injections?
advice about iron infusion 
