Mthfr ala222aval heterozygous

[knackers323]

Could someone please explain what this means and how it would effect methylation treatment please.

 

[Sea]

It is a single change of a nucleotide (or allele) in the MTHFR gene better known as C677T. C and T are the two options for alleles at position 677 of the gene.

If the allele is a C the protein it codes for (at position 222 of the amino acid) will be Alanine (Ala). If it is a T the protein will be Valine (Val). Hence its alternative name Ala222Val. Because the allele change affects the protein that is made it is known as a missense mutation

The MTHFR gene is responsible for making folate usable by the body and this mutation affects the ability to do this. Homozygous C677T reduces this ability to 30%, heterozygous by itself reduces it to around 60% but it can be further reduced if there are other mutations in the gene as well.

http://en.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase

Methylation is affected because methyfolate is an integral part of the methylation cycle. A person with this mutation needs more methylfolate. It is still important though to have methylfolate in some balance with B12. I wouldn't take just methylfolate by itself

 

[Critterina]

...in other words, it means you're going to want to supplement with methylfolate.

 

[knackers323]

Thank you guys. What happens if folate and B12 are out of balance?
These are beginner questions I know but I am new to the whole methylation thing. I've been doing lots of reading but its heavy going with a brain that won't work.

 

[Critterina]

Thank you guys. What happens if folate and B12 are out of balance?
These are beginner questions I know but I am new to the whole methylation thing. I've been doing lots of reading but its heavy going with a brain that won't work.

There are two basic things that can happen, according to @Freddd, and they are called "paradoxical or doughnut hole folate deficiency" and "methyl trap". I'm not sure I'm convinced of either, but it's a story worth listening to. Search on them or search his posts, and you'll find plenty of material that doesn't need to be reproduced here.

 

[Sea]

Thank you guys. What happens if folate and B12 are out of balance?
These are beginner questions I know but I am new to the whole methylation thing. I've been doing lots of reading but its heavy going with a brain that won't work.

Taking folate without B12 can mask a B12 deficiency. Irreversible neurological damage can be happening but all testing that would usually flag a deficiency (eg red cell size) will be normalised if taking folate. That is not just a theory, it is well recognised in many studies. One of the downfalls of folate fortified foods is that many elderly people (who are a population recognised as often deficient in B12) are not having that deficiency caught early.

I don't know enough to advise any ratio, I just know it is important to take B12 when taking folate