Genetic variants relating to b12 abso... - Pernicious Anaemi...

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Genetic variants relating to b12 absorption, metabolism and status.

MorningMist profile image
4 Replies

An article from 2018 that demonstrates the complexity of the b12 pathway and the numerous faults/variants that can reduce its uptake.

For anyone interested but disinclined to plough through it, the conclusion summarises the extent of the issue.

genesandnutrition.biomedcen...

Apologies if this duplicates anything previously posted

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MorningMist profile image
MorningMist
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4 Replies
wedgewood profile image
wedgewood

Thanks for that article MorningMist . Too complicated indeed for a non scientist to grasp . But our doctors should be able to, but don’t . Pernicious Anaemia patients are treated abominably and so often dismissed as Hypochondriacs. Why don’t the “powers that be “ rectify this ? Martyn Hooper our fantastic Chairman has made super human efforts, and we are so very grateful to him . I wonder how much longer it will take for B12 deficiency and Pernicious Anaemia in particular to get the attention they need from the Medical Profession . I live in hope .

MorningMist profile image
MorningMist in reply to wedgewood

I found it impossible to grasp the detail but it does show the numerous faults which can occur in absorption and metabolism. It’s no wonder that so many people feel below par but can’t find the reason why.

I don’t think most in the medical profession today have any idea of the complexity of it. A bit of humility would go a long way.

Jillymo profile image
Jillymo in reply to MorningMist

They dont even listen to their patients these days let alone diagnos and understand that diagnosis ! They simply have had no or little training with regard to nutrition.

This is what we are up against.
Cherylclaire profile image
CherylclaireForum Support

I was very lucky - I got my DNA tested for 10 of the 19 identified here, back in 2018.

2 heterozygous variants were found in MTHFR and MTRR, but nothing that would have given them pointers to my specific problem.

The team were disappointed that they had been unable to help me - and apologised ! I think that they recognise they are the end of the line......

For some !

I now believe that my initial problem may have been caused, in part at least, by salivary haptocorrin as a binder/transporter being compromised by saliva duct strictures and saliva gland infections. This is rarely included in the B12 pathway, where focus tends, as in this study, to begin with the stomach - but is the first stage and is involved with the protection of B12 in food (extrinsic factor) by haptocorrin production in the saliva glands.

I am currently trying to find out if this can be measured, if there is a test available. If not, then perhaps I really will need to give up the search.

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