Found out I carry the PSEN1 gene is this a death sentence?

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giftsplash
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Found out I carry the PSEN1 gene is this a death sentence?

Post by giftsplash »

Found out today that I carry the rs63750590(A;G) gene, I am 48 and have always been a little forgetful of names but nothing that I would consider a problem.
Is there any recommendations you can suggest. I am also APOE 3/4
Last edited by giftsplash on Thu Dec 07, 2017 7:43 pm, edited 1 time in total.
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Julie G
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Re: Found out I carry the PSAN1 gene is this a death sentence?

Post by Julie G »

{{{Giftsplash}}} Deep breath, my friend. I wish I had an easy answer for you. I'm unsure if a single PSEN1 snp is causative. As you can see by this list, there are many. Do you have a strong family history? Many affected family members? Especially affected at a young age? I would suggest making an appt. to speak with a genetic counselor so that you can sort out the implications.

I do know that Dr. Bredesen is working with at least one EOAD family with good success. From my understanding, they are delaying onset by following his protocol. Are you familiar with 'The End of Alzheimer's?" if not, you may want to begin applying strategies ASAP. I'm happy to reach out to Dr. Bredesen on your behalf. Please let us know what you find out. I'm sending lots of love and strength your way. -xo
giftsplash
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Re: Found out I carry the PSAN1 gene is this a death sentence?

Post by giftsplash »

Nobody in my family ever had Alzheimer's my dad is apoe4/4 and is 72 and still very sharp. But he does not have PSEN1 gene we just checked this evening.
Not sure if this information helps you.
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Jan
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Re: Found out I carry the PSEN1 gene is this a death sentence?

Post by Jan »

Giftsplash, I like Julie's point cautioning against wholesale acceptance of the strength of a single PSEN1 snp. And I second her suggestion that you look into all the points mentioned in Dr. Bredesen's book right away. From looking a bit at your prior posts, I know you've been attentive to your health for a long time, and of course the healthier you are, the stronger your defenses are. A big part of overall health is dealing with stress, which must be very difficult right now. Are there ways we can help with that?
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SusanJ
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Re: Found out I carry the PSEN1 gene is this a death sentence?

Post by SusanJ »

Sending some hugs, gift.

It does seem that since your family has not seen cases, the PSEN1 by itself might not be an issue. I found this 2017 reference that pointed out:
EOAD is inherited in an autosomal dominant fashion, which is governed by a rare mutation in three genes: Amyloid precursor protein (APP) on chromosome 21q, presenilin 1 (PSEN1) on 14q and presenilin 2 (PSEN2; a homolog of PSEN1) on 1q.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526178/

ApoE4 isn't even in that list of the 3 biggies.

As Julie suggests, you could talk to a genetic counselor to help pin down more specifics.
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Re: Found out I carry the PSEN1 gene is this a death sentence?

Post by giftsplash »

Thank you very much for the information, this is why I love these boards. I will need to take a few days to absorb everything. If anyone else has any info it would be apreciated.
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Re: Found out I carry the PSEN1 gene is this a death sentence?

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Don't have any suggestions beyond what has been said by the others here, just wanted to offer my support!
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Re: Found out I carry the PSEN1 gene is this a death sentence?

Post by ajackson »

That must feel very crazy-making and scary. It would to me. I also don't have any suggestions other than what has already been mentioned. I just wanted to offer my support too!
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Re: Found out I carry the PSEN1 gene is this a death sentence?

Post by Lucy5 »

Giftspash, I also wanted to say that I'm following your thread and know that you'll continue to find support from this community! I'm hoping you'll feel free to share with us how you're doing as you learn more.
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Re: Found out I carry the PSEN1 gene is this a death sentence?

Post by J11 »

giftsplash, best wishes as you cope with this new information.

As a suggestion, you might consider using online genealogy/genetics databases to gain a better perspective of
how this the PSEN1 variant fits into your family tree. In today's world of small families and often little or no contact
with one's extended family, it is easy to be unaware of the bigger picture. Many in my family were totally unaware of
the presence of dementia in our broader family. When you pull back 4 or 5 generations, the presence of dementia or
other illnesses/traits should become obvious- if the genotyping were in fact accurate.

If I were you, I would go to Ancestry.com, and build out your family tree for 5-7 generations. Their software makes this incredibly easy to do. All you need to most of the time is point and click and the software fills in everything for you. When you go back many generations this can lead to wrong turns, though in the modern era (say after 1800) there begins to be an overwhelming amount of records kept -- probably a legacy of increased literacy rates. Before 1800, records in many places become very scarce. I was fairly surprised that a record had been scanned into my Ancestry.com of an intra-country boat trip from the 1850s and it apparently had been preserved in a storage facility for the last 150+ years.

{Somewhat scary that such records would be maintained for such a length of time. The record keeping department must have people who believe every single scrap of the past should be preserved. I must admit that after 20-30 years I might discard the odd bus transfer slip or labeled piece of junk mail, though only after I have thoroughly shredded it!}

Oh, and the best part--- A trial membership on Ancestry.com is FREE.
FREE is good.
Free is very good!

The next step would be to upload your DNA file along with that of your father and anyone else who has been genotyped in your family to GEDmatch. Once the files had been processed, you could then use their phasing feature and include your file along with your father's. The result would be a file that shows the DNA you inherited from your father (This has a P1 suffix attached to the kit number) and a file that shows the DNA you inherited from your mother (It has an M1 suffix).

You could then find which matches on GEDmatch matched your phased M1 file on the PSEN1 strand with the potential AD risk. You would need to bump up to Tier 1 to do this. Tier 1 has a fee of $10 for 1 month's of access. Use the Matching Segment Search tool in Tier 1 with your phased GEDmatch file generated during phasing with the M1 suffix. In order to make this faster, you could choose only chromosome 14 in the pull down menu choices.

This would only take you a few minutes and you would then know the relatives who share the PSEN1 risk segment. GEDmatch provides email addresses of matches. You could then contact these matching relatives and inquire about their dementia histories. This would be a great way to confirm the results of the gene chip. There is a small possibility that relatives would share the same DNA strand with the PSEN1 risk, though not have had a family history of AD. This could result from the PSEN1 mutation occurring after the most recent common ancestor.

The technology available on GEDmatch to do this sort of research is truly extraordinary. These databases have only existed for the last number of years and yet they offer you powerful analytic tools that genealogists could only imagine 10 years ago.

Going through this process would be a great way to confirm the accuracy of the gene chip result and would give you a better understanding of the variant's family context. Contacting other family members could be such a gift for them because often
people are totally unaware of these risks.
Last edited by J11 on Mon Dec 11, 2017 12:20 pm, edited 4 times in total.
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