Rare variations of the APOE ε4 gene allele (R251G) can DRASTICALLY reduce the risk of AD

[Maria4/4]

Post found @drdalebredesen (instagram)

"A study from earlier this year shows that two rare variations of the APOE ε4 gene allele – APOE ε4 (R251G) and APOE ε3 (V236E) – can DRASTICALLY reduce the risk of developing Alzheimer’s disease (AD). This is a fairly surprising development since the APOE ε4 gene is also known as one of the strongest and most common genetic risk factors for late-onset AD.

APOE ε4 (R251G) is a newly-identified variant that modifies the lipid binding region that is inherited with APOE ε4 and can reduce the risk of AD by more than 60%. The other variant, APOE ε3 (V236E), is co-inherited with APOE ε3 and can reduce the risk of AD by more than 50%. This variant had already been associated with a decreased risk in smaller studies, but the data are much stronger in this study. It has to be noted that these variants are extremely rare, though, with an estimated population frequency of less than 0.1% (1 out of a thousand).

This is very important: with an understanding of how these variants work, there’s a possibility to develop a drug that mimics their effects to reduce the impact of the APOE ε4 gene. This could be a game-changer."

more info https://www.medscape.com/viewarticle/97 ... ess_221116

[floramaria]

Post found @drdalebredesen (instagram)

"A study from earlier this year shows that two rare variations of the APOE ε4 gene allele – APOE ε4 (R251G) and APOE ε3 (V236E) – can DRASTICALLY reduce the risk of developing Alzheimer’s disease (AD). This is a fairly surprising development since the APOE ε4 gene is also known as one of the strongest and most common genetic risk factors for late-onset AD.

APOE ε4 (R251G) is a newly-identified variant that modifies the lipid binding region that is inherited with APOE ε4 and can reduce the risk of AD by more than 60%. The other variant, APOE ε3 (V236E), is co-inherited with APOE ε3 and can reduce the risk of AD by more than 50%. This variant had already been associated with a decreased risk in smaller studies, but the data are much stronger in this study. It has to be noted that these variants are extremely rare, though, with an estimated population frequency of less than 0.1% (1 out of a thousand).

This is very important: with an understanding of how these variants work, there’s a possibility to develop a drug that mimics their effects to reduce the impact of the APOE ε4 gene. This could be a game-changer."

more info https://www.medscape.com/viewarticle/97 ... ess_221116

Thanks for posting this, Maria4/4. I don’t follow Dr Bredesen’s Instagram account (or anyone else’s), and I appreciate your sharing the info on this site.

[KWhitney]

Hi, how would one know if they have these variants? Is there a way to see it on a report? Thanks

[NF52]

Hi, how would one know if they have these variants? Is there a way to see it on a report? Thanks

Hi Whitney,
A comment on the abstract of the original article reference labels the actual "SNP" for this gene as rs267606661 with "G" apparently being the helpful version.]https://jamanetwork.com/journals/jaman ... ct/2793004,

However, like most rare variants, this is not one that shows up on my 23&me report, and I assume is one of the many parts of our genome that we don't usually see tested. I did see a leading researcher, Dr. Michael Grecius, expects that a both cell studies and mouse studies will be done in the near future (which can mean the next few years, given academic funding cycles) to see how this actually protects people.

[KWhitney]

Thank you, yes I have the 23 & me report so I guess there is no way to know... bummer but thank you for responding.

[Brian4]

Hi everyone.

Whole genome sequencing has come down so much in price that it might be worth having it done. Then you can look up all these variants as research reveals them.

I look up the variants by sucking the gargantuan genome file into a text reader that can handle huge files (the program is called LTF), and then just read them off. But that's a baroque way of doing it and not to be emulated!

If someone who knows how to use genome browsers can explain how to look up variants in a genome file (for ex. a VCF file) using these other (somewhat??) user-friendly tools, that would be helpful. SelfDecode might make this really simple. Not sure; haven't had time to look into it.

And no, I do not have the rare R251G allele.

Brian