New to board - 3/4

Newcomer introductions, personal anecdotes, caregiver issues, lab results, and n=1 experimentation.
OkieDokie
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Re: New to board - 3/4

Post by OkieDokie »

NF52 wrote: Not to play neurologist, but cardiovascular disease is a major contributing risk factor for people with ApoE4 (as my dad discovered too late.) Your mother's diagnosis of Alzheimer's may be the primary diagnosis, with typical clinical symptoms (seen in observation and testing) of memory and daily living skills impairments, rather than a "typical" post-stroke focal (isolated) difficulty with right or left-sided movements or speech. I've seen presentations and talked with researchers in the field who say that the majority of "Alzheimer's" cases in people over the age of 65 who have ApoE 4 include vascular disease also, with history of hypertension, strokes, carotid artery stenosis, coronary artery disease and white matter hyperintensities on an MRI. Studies of cognitively healthy people with ApoE4 show that many tend to have a more permeable blood-brain barrier starting at about age 60 and that pre-symptomatic vascular disease may need to be more carefully monitored and managed in this population.
Thanks, NS52. Read through my mother's medical records, she does seem to have some of the issues you've described, such as the hypertension (controlled with meds), stenosis, and the presence of that apparent mini-stroke.

During my father's illness, while I was with my dad my brother had taken mom to some appointments (we were in different states, was very difficult) and was there when she got the results of a scan that indicated some level of COPD. The scan for was for a TB test for her move, nothing to do with any breathing difficulties. This was right before my father's passing and so I had not read those notes in detail, but I did right before her appointment this week and was pretty shocked. The scans apparently indicated a "significant change" since a prior scan in 2019, which largely appears to coincide with her cognitive decline. My mom smoked (though not a "heavy" smoker) for several decades before quitting back in the mid-90's, so I was surprised to see "advanced emphysema" described as she does not exhibit any obvious symptoms. Apparently this is a new development... I've seen some articles that there is a correlation between COPD and dementia, but to me the timing of both developments is very alarming.
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Re: New to board - 3/4

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Out of curiosity, has anyone else thought during researching SNPs that they are essentially a walking lab experiment? The more I look, the more head-scratching the results... What must it be like to be just "normal"? I've spent additional time studying various variants mentioned here and out there in literature and have found the following for myself (which yes, have resulted in a roller coaster of highs and lows):

The Good / Golden Tickets?
rs5882 GG (16% population)
Klotho-VS heterozygous (~20% population)
rs3846662 AA (HMCGR, ~30% population?)
Probability of all 3 of above? ~1%
Lesser mentioned:
rs3747742 CT (TREM2L)
rs3796529 CT (REST)

The Not so Good?
APOE3/4
rs1049296 CT
rs1800562 AG
Gs293 (tri-carrier of above 3, ~0.15% of population) – snpedia states up to 37.5X OR (2004 study), but more recent studies indicate smaller or no additional risk. Small population to study so it's ?? rs1800562 variant is described as even protective in some articles. So, hmm....
rs143332484 CT (TREM2, increased risk, ~1% population). Reading about this beauty led me to the TREM2L variant above

Also found out I'm asymptomatic AMPD1 homozygous deficient, which is another fun 1-2% of people mutation. What's interesting on that one, though, is that even though it apparently impairs overall muscle performance under rigorous exercise (I've never noticed and I'm generally pretty athletic), it also is associated with improved survival for those with heart failure and coronary artery disease, and has also been linked to less severe states of insulin resistance and lower incidence of diabetes and obesity. So...neat?

So, after countless hours of research and reading numerous articles I have tried and failed to understand, I've basically come to the conclusion that I'm either the next member of the X-men or an alien :P
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Re: New to board - 3/4

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OkieDokie wrote:Also found out I'm asymptomatic AMPD1 homozygous deficient, which is another fun 1-2% of people mutation. What's interesting on that one, though, is that even though it apparently impairs overall muscle performance under rigorous exercise (I've never noticed and I'm generally pretty athletic), it also is associated with improved survival for those with heart failure and coronary artery disease, and has also been linked to less severe states of insulin resistance and lower incidence of diabetes and obesity. So...neat?
Many of us have been down the same road trying to get a grasp of our various risk factors and levels. Ultiimately it's a reductionist effort that will hopefully find clarity some day using big data.

I love your example above, in part because I'm heterozygous on AMPD1. Unlike you, I do have muscle issues, while the literature says I shouldn't. Of course that could have other causes for me.

Maybe our brains are too small to wrap it all up with a bow for a reason.

There was also an old study … I should try to find it … that showed that we can easily reach a threshold of information beyond which we don't make better decisions.
ApoE 3/4 > Thanks in advance for any responses made to my posts.
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Re: New to board - 3/4

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OkieDokie wrote:Out of curiosity, has anyone else thought during researching SNPs that they are essentially a walking lab experiment? The more I look, the more head-scratching the results... What must it be like to be just "normal"?
I have offered to donate my body to research countless times! :lol:

Have you looked at your SNPs visually in connections to the different pathways? I have a poster that sits behind me which has some pathways of SNPs. I remember reading up on the SNPs, but seeing how they interconnect together really shed some more light on my health. It's a giant experiment for me, but I've had chronic illness a majority of my life. So the SNPs revealed so much within the pathways itself. I've always asking myself, if can I push the SNP to speed up the pathway in the direction I need it go. I'm doing deeper dives into the methylation, sulfation, and histamine pathways.

Being our own X-Men sounds really cool to me!
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Re: New to board - 3/4

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circular wrote: I love your example above, in part because I'm heterozygous on AMPD1. Unlike you, I do have muscle issues, while the literature says I shouldn't. Of course that could have other causes for me.
I had known about that one from my Ancestry DNA from years ago, but only now with my brain on overdrive reading article after article did I re-visit it ("what was that other weird thing I have?"). For all I know I'm not completely asymptomatic (I did seem to tire on long sprints in track and field?) but consider myself lucky despite having it. Hopefully your muscle issues aren't too difficult to deal with... It seems like nearly all of the research on AMPD1 has been with regards to sports, but I am certainly curious as to what potentially elevated levels of adenosine may have on health.

For what it's worth I found this blog post to be pretty interesting and accurate. I don't really experience sleepiness but I'm definitely big caffeine drinker lol.. There's also a facebook group out there on it.

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Re: New to board - 3/4

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nerdymel23 wrote: I have offered to donate my body to research countless times! :lol:

Have you looked at your SNPs visually in connections to the different pathways? I have a poster that sits behind me which has some pathways of SNPs. I remember reading up on the SNPs, but seeing how they interconnect together really shed some more light on my health. It's a giant experiment for me, but I've had chronic illness a majority of my life. So the SNPs revealed so much within the pathways itself. I've always asking myself, if can I push the SNP to speed up the pathway in the direction I need it go. I'm doing deeper dives into the methylation, sulfation, and histamine pathways.

Being our own X-Men sounds really cool to me!
I'm glad I'm not the only one! I'm still a novice in all of this, so no, I don't know much about SNPs or pathways just yet (but trying to learn as much as possible). Another outcome has been that I, in my early 40s, now regret that I didn't think more about considering genetics as a career path. Maybe not too late considering we need to keep our brains as active as possible :)
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Re: New to board - 3/4

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nerdymel23 wrote: I have a poster that sits behind me which has some pathways of SNPs. I remember reading up on the SNPs, but seeing how they interconnect together really shed some more light on my health.
. This sounds like a great resource. If it is something that might still be available, would you tell me where to find it or the “official” name so I can look for it? Thanks
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nerdymel23
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Re: New to board - 3/4

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floramaria wrote:
nerdymel23 wrote: This sounds like a great resource. If it is something that might still be available, would you tell me where to find it or the “official” name so I can look for it? Thanks
It's the StrateGene pathway planner from Seeking Health. After ready Dirty Genes by Dr. Ben Lynch, I started following him more and saw he had outlined the pathways for various SNPs. I really want to run the new updated test from them. I purchased the poster and the 50 page pdf with all the pathways. I waited patiently for a sale a few years ago and it's been a fun investment.
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Re: New to board - 3/4

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OkieDokie wrote:… Hopefully your muscle issues aren't too difficult to deal with... It seems like nearly all of the research on AMPD1 has been with regards to sports, but I am certainly curious as to what potentially elevated levels of adenosine may have on health.

For what it's worth I found this blog post to be pretty interesting and accurate. I don't really experience sleepiness but I'm definitely big caffeine drinker lol.. There's also a facebook group out there on it.

I'm glad it's not affecting you that much to your knowledge. Apparently it's a very common mutation and many who have it don't feel effects, or at least don't know where they come from.

Actually it's good for me to revisit this SNP, so thanks for expanding on it. I recall now that I don't have the muscle soreness, but I am, off an on, terribly prone to cramping muscles (even when my electrolytes are good). The dangdest muscles can cramp in the strangest directions! I don't know if AMPD1 is involved with that though.

When I first looked into it I read that ribose may help, but I also read that ribose can raise insulin, so I haven't used it. Creatine may help too, but that makes me so bloated I hate using it.

I had also come across that blog post several years ago and even corresponded briefly with the author, who emphasized that he was mostly speculating and wouldn't want someone to conclude too much from it and be mislead. But it's interesting food for thought at least.

He says, "Particularly interesting is that in these case studies, one patient mentions that the fatigue is exacerbated by exercise." I do have problems with post-exercise fatigue, whether or not I'm tired before the exercise. I'd long since forgotten about that blog post and the possibility (?) that AMPD1 is involved. I may experiment with using caffeine before exercise. I usually stop caffeine in the morning and exercise later in the afternoon.
ApoE 3/4 > Thanks in advance for any responses made to my posts.
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Re: New to board - 3/4

Post by OkieDokie »

circular wrote: I'm glad it's not affecting you that much to your knowledge. Apparently it's a very common mutation and many who have it don't feel effects, or at least don't know where they come from.

Actually it's good for me to revisit this SNP, so thanks for expanding on it. I recall now that I don't have the muscle soreness, but I am, off an on, terribly prone to cramping muscles (even when my electrolytes are good). The dangdest muscles can cramp in the strangest directions! I don't know if AMPD1 is involved with that though.

When I first looked into it I read that ribose may help, but I also read that ribose can raise insulin, so I haven't used it. Creatine may help too, but that makes me so bloated I hate using it.

I had also come across that blog post several years ago and even corresponded briefly with the author, who emphasized that he was mostly speculating and wouldn't want someone to conclude too much from it and be mislead. But it's interesting food for thought at least.

He says, "Particularly interesting is that in these case studies, one patient mentions that the fatigue is exacerbated by exercise." I do have problems with post-exercise fatigue, whether or not I'm tired before the exercise. I'd long since forgotten about that blog post and the possibility (?) that AMPD1 is involved. I may experiment with using caffeine before exercise. I usually stop caffeine in the morning and exercise later in the afternoon.
Yes, very surprising to me that I don't notice any adverse impacts despite essentially missing an enzyme. I've had an occasional weird cramp in my life (arch of foot, anyone?) but nothing really associated with physical activity.

Thanks for the heads up on d-ribose! I had just bought some and started taking it (more of an experiment than anything) but after reading a few articles I think will pass.

I occasionally drink coffee before a workout, but almost always have one soon afterwards - sounds kinda weird, but I look forward to it. Maybe related to the elevated adenosine he mentions? I've always gotten a "runner's high" after workouts so not sure how that plays into the mix...
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