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PSEN1 Carrier

Newcomer introductions, personal anecdotes, caregiver issues, lab results, and n=1 experimentation.
aliciabrasch
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PSEN1 Carrier

Postby aliciabrasch » Tue Jan 12, 2021 1:07 pm

Hi All,

I hope its okay that I join your site. I carry an early onset gene, which is only roughly 1% of the Alz population. PSEN1 is one of the three inherited genes that causes early onset Familial Alzheimer's disease. It is 99.7% penetrant which means, I'm suppose to get it. But, alas, I am testing out biohacking and hope to glean more from this website.

Alicia

NF52
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Re: PSEN1 Carrier

Postby NF52 » Tue Jan 12, 2021 4:24 pm

aliciabrasch wrote:Hi All,

I hope its okay that I join your site. I carry an early onset gene, which is only roughly 1% of the Alz population. PSEN1 is one of the three inherited genes that causes early onset Familial Alzheimer's disease. It is 99.7% penetrant which means, I'm suppose to get it. But, alas, I am testing out biohacking and hope to glean more from this website.

Alicia
A warm welcome, Alicia!

It is definitely okay that you joined this community! We welcome anyone who thinks it might be helpful to learn more, do more and share more, so that we enjoy lives with purpose, meaning and self-empowerment. None of us knows exactly what our future holds, even those of us who have a high genetic risk of Alzheimer's or other diseases. So we can be companions in our search for a path that works for each of us through uncharted terrain.

I suspect it took great courage to deal with the knowledge that you carry a PSEN1 gene mutation. PSEN1 mutations are diverse, from the little I know, and can affect people at various ages, with one article noting families with onset in the late 50's, and others in the 60's or even 70's.

Here's an excerpt from an overview of the PSEN1 mutation from ALZ Forum, a site that provides summaries of current research for scientific researchers and others interested in Alzheimers:https://www.alzforum.org/mutations/psen1-a79v I took the liberty of highlighting some sections!
This autosomal dominant mutation is associated with a wide range of age at onset of Alzheimer’s disease. It was first identified in three Alzheimer’s disease patients from the Netherlands. The patients (1005, 1061, and 1087) were not known to be related, but genetic markers flanking PSEN1 suggested a relatively recent common ancestor. All three patients met NINCDS-ADRDA criteria for probable AD and had a family history of dementia. The ages at onset were 53, 55, and 58, consistent with early onset AD. The mutation was absent in the 118 control individuals screened (Cruts et al., 1998).
...
A fifth family was identified with a later age at onset than observed previously, with greater variability within the family as well (mean age at onset of 69 years; range: 55 to 78 years) (Kauwe et al., 2007).

Three additional AD patients carrying this mutation have been identified (Rogaeva et al., 2001; Miravalle et al., 2002), and more recently the A79V mutation was detected in a screen of 439 families with a history of late-onset AD (onset at age 65 or later) (Cruchaga et al., 2012). The mutation was found in four of these families, including in one individual from a previously reported family (Kauwe et al., 2007). The sequenced individual from this family had autopsy-confirmed AD and an age of onset of 76 years. ... In addition, the mutation was identified in 10 of 22 members of a family of European ancestry who developed AD symptoms in their 70s and 80s (Day et al., 2016).

Because this mutation was only discovered in the 1990's, it's probably impossible for any doctor to predict your own future.

I am on the Alzheimer's Clinical Trial Consortium (ACTC) Participant Advisory Board through UC San Diego with someone who also has an EAOD mutation. He chose to get tested in his early 30's after finding out that his father and grandfather had EAOD which started in their 40's. His goal is to work towards a cure for himself and possibly for his young daughter, who inherited a 50% chance of the mutation. He also seeks to raise awareness of his particular "Jalisco" mutation, which affects a small number of people of Mexican ethnicity. From him I learned of DIAN, the Dominantly-Inherited Alzheimer's Network. It's an international network of research centers with strong government funding seeking to rapidly accelerate knowledge of the processes involved with EAOD. They are actively seeking people with known or suspected risk to enroll in registries (for observation) and clinical studies (using brain imaging, blood studies and in some cases, drug trials). Gene editing is something that DIAN researchers see as a real possibility in the future. Unlike late-onset AD, which appears to involve multiple triggers and therefore likely to need multiple approaches to prevent and treat, EAOD may offer single mutations that can be corrected, similar to very recent gene editing for sickle cell disease and Cooley's anemia.

Here's a link to the website of the lead center for DIAN studies https://dian.wustl.edu. You'll find lots of information on support for families and participants. You may also have opportunities to meet people your age with whom you can share your own biohacks and help researchers discover lifestyle factors to reduce risk and increase resilience to PSEN1.

One of our wonderful interns will give you more information on how to navigate around the forum, but please know that we are better for you having found us. Hugs from a friend in Virginia.
4/4 and still an optimist!

birdie18
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Re: PSEN1 Carrier

Postby birdie18 » Tue Jan 12, 2021 10:28 pm

aliciabrasch wrote:I hope its okay that I join your site. I carry an early onset gene, which is only roughly 1% of the Alz population. PSEN1 is one of the three inherited genes that causes early onset Familial Alzheimer's disease. It is 99.7% penetrant which means, I'm suppose to get it. But, alas, I am testing out biohacking and hope to glean more from this website.
Hi Alicia,
You are absolutely welcome here! I was glad to see NF52 quickly share a wealth of information about PSEN1. It was all new to me! I hope you continue to elicit such useful responses. We are all learning from each other!

A few tips on how to best use this website: The Primer is informative on many aspects of Alzheimer's Dementia including diagnosis, prevention and other health considerations related to APOE4. Navigating the site and sharing in the forum conversations is encouraged and much easier if you follow the guidelines here. Do check out the Stories that people have shared over the years and if you are so inclined, feel free to add your own.

I did a little search on the wiki and found a couple of references to PSEN, midway on the page under "A Special Note about Alzheimer’s Disease." May your biohacking take you on a healthy, long lived journey. Indeed, there are many paths to clear, open energy channels. You will discover a few that serve you best.
birdie18
APOE4.info Intern2020
Functional Medicine Certified Health Coach
Naturopathic Physician
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Matisse
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Re: PSEN1 Carrier

Postby Matisse » Wed Jan 13, 2021 7:23 pm

Welcome Alicia! Hope you are finding information here that's helpful to you. Do you mind if I ask what the RS# is of the PSEN mutation you have? Did you get the results from 23andme or a physician's office? Do you have early onset dementia in your family? Perhaps you have already checked it all out, but I'm just wondering whether your results were accurate.

J11
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Re: PSEN1 Carrier

Postby J11 » Wed Jan 13, 2021 7:25 pm

alicia, a very powerful way of developing understanding into your PSEN1 mutation would be to go to a website such as GEDmatch, 23andme etc. are search out relatives who share this stretch of DNA with you. GEDmatch would probably be the best because they have the tools that let you triangulate matches. This would allow you find the "right" strand and then locate the relatives who share this "right" strand and the PSEN1 mutation. This could be quite helpful to you because often research might talk of the quite vague term "Alzheimer's" when you are more interested in perhaps your own variant of AD. Large AD trials obscure this fact. APOE 4 carriers are fortunate in that typically results will report outcome by epsilon 4 status, though other genotypes are not now currently mentioned.

With your extended PSEN1 family you could develop a better understanding of what the typical outcome is for the variant. Also you might be able to find extended family that are largely unaffected (perhaps they have protective genotypes?). Full genome sequencing which now costs ~$300 for 30X coverage might also be worth exploring. I hope you find these suggestions helpful.


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