B12 recycling genes

[davidpa]

Hi, does anyone have any info regarding the MTRR genes in the methylation cycle which are apparently involved in the recycling of B12.

Thanks,

Davidpa

[Gambit62 Administrator]

you might find this US site useful - these are the search results for MTRR

ghr.nlm.nih.gov/search?quer...

and this is the section on MTRR

ghr.nlm.nih.gov/gene/MTRR

[fbirder in reply to Gambit62]

There's a small error in the first link.

Mutations in the CBS, MTHFR, MTR, MTRR, and MMADHC genes cause homocystinuria.

There should be a 'can' before the word 'gene'.

Not all mutations in a gene result in a faulty enzyme.

For a start, there's quite a bit of redundancy in the genetic code. There are several 'synonyms' for each codon (the basic coding block of DNA). So the three-letter code CCC codes for the amino acid proline. If there's a mutation in the third letter to change it to CCT then it will still produce proline.

Some mutations will produce a different amino acid (changing CCC to TCC will produce serine instead of proline). But that change may make little, or no, difference to the functioning of the enzyme. Enzymes are very big molecules, with lots of amino acids, many of which are just there as space fillers.

Also, we get two copies of each gene. So if we only have one 'bad' copy then the good copy can still produce a working enzyme.

I have 4 mutations in CBS, 2 in MTHFR, 2 in MTR and 5 in MTRR (MMADHC not tested) and survived quite happily for many decades oblivious of that fact.

[Gambit62 Administrator in reply to fbirder]

the first link is just a search result - you would really need to click in to the exact link to see what is being said.

Personally I don't have a problem with the phrasing in that opening phrase, particularly given the context of the site.