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.
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.