Pa snps

[Jeast]

Anyone know the specific snps that cause pa? In particular the rs numbers.

[Gambit62 Administrator]

Only genetics on PA that I'm aware of is a correlation with premature greying and blue eyes but those haven't been linked to specific genes.

Genes that I am aware of that affect processing of B12 and folic acid/are affected by processing of B12 are MTHFR, MTRR. COMT, MTR though there are probably others and so far people might understand how a particular genetic variant in a gene works but think there is a long way to go till they actually understand how the different variants might interact with each other

[Jeast in reply to Gambit62]

Thank you. I have some of the yasko complement, but was thinking there might be one that miscoded intrinsic factor. Took the b12 calculator test, and came up 100% tho I didn't have a serum b12.

[Gambit62 Administrator in reply to Jeast]

suggest that you get your B12 and folate levels checked if you suspect that they might be low. If B12 comes back in the grey range then push for MMA and or homocysteine to help clarify what is going on at the cell level.

[Jeast in reply to Gambit62]

Would love to but none of my doctors will agree. In a panic, in 2013 they gave me the injections, 11,000 mcg/day for 7 days. Gave me a blood transfusion, and a whole lot of morphine. Then they found out l have beta thalassemia-- whole lot of back pedaling then. It was in my records, and they should never have given me the blood. My ferritin was over 600. So they were embarrassed. And they had no explanation for why I had acute pancreatitis. They really, really wanted to believe I was a closet alcoholic. My serum b12 came back normal. Then they found deep vein thrombosis, and 16 days later I went home on Coumadin. What followed was the best year of my life. When the effects began to fade, I went the round of doctors, and they all agreed that my symptoms were caused my the beta thal. ---in the same breath they will assure anyone that listens that beta thal minor is completely benign, so of course one can experience both micro and macrocytosis at the same time. The tingling and numbness in my hands, the hair loss, etc, etc., are the inevitable result of aging. Won't test, won't trial. I ask, why did I have a year where I felt 16 again? Shrugs all around. So looking for a new doctor. Sorry, ranting. Thanks very much for the input. Was delighted to find this site. So much new info.

[fbirder]

Interesting question. I've just had a look and found this - orpha.net/consor/cgi-bin/OC...

The incidence of homozygous mutations on the only SNP I could find is very low - snpedia.com/index.php/Rs352... - which would correlate with the extreme rarity of Congenital Intrinsic Factor Deficiency. I'm homozygous for the wild type.

[Jeast in reply to fbirder]

I'm T/T. Homozygous,right? Looks like CC is pathogenic version. Still get confused about wild type. Need to take a genetics course. Have some methylation errors, followed the yasko protocol for about a year and a half. Still doing it with my autistic grandson, but his vitiligo continues to worsen, tho we saw improvement in his behavior. Convinced we need to inject. And maybe hydroxycobalamin instead of methyl. Thanks for the info. Going to check my kids raw data too.

[fbirder in reply to Jeast]

Yes, TT is the wild type (the normal one).

There's a lot of nonsense on the interwebs about methylation problems. You'll notice that not many real doctors give it any credence at all.

[Jeast in reply to fbirder]

Kind of losing faith in the real doctors.

[fbirder in reply to Jeast]

I know what you mean. I'm losing faith in Independant Financial Advisors, so I've decided to ask BetFred how I should invest my pension

I looked on their web site and they had lots of stories from people who had followed their advice and made thousands. With that sort of recommendation how could I go wrong?

[Jeast in reply to fbirder]

Yes, but you get to make that decision yourself. No one can bar you (spouse willing). And you can even do your own research, and choose to manage your own finances.

In either analogy, isn't it unethical to require payment for service not delivered?