By Katy Koop | January twentieth, 2023
With a 23andMe take a look at, Wendy Nelson, Ph.D., found she carries two copies of Alzheimer’s genetic biomarker ApoE4 — the “Alzheimer’s gene.” It modified the best way she thinks about mind well being.
When Wendy Nelson, Ph.D., found that she carries two copies of Alzheimer’s genetic biomarker ApoE4, a gene variant related to heightened Alzheimer’s threat, she leaned on her profession in biotech to determine what to do subsequent.
When Nelson was rising up, her grandfather and her mom’s father had Alzheimer’s, as did her mom’s aunt.
“So, my mother was all the time very afraid of getting Alzheimer’s, and positive sufficient, she did get it and was fairly younger,” she advised Being Affected person. Certainly, Nelson’s mom was identified with Alzheimer’s in her mid-60s, and Nelson recollects having seen indicators of Alzheimer’s signs earlier than that.
This was her mom’s facet of the household — however what about her father’s facet? After her mom’s dying of Alzheimer’s in 2022, Nelson determined to pursue genetic testing. She was inquisitive about whether or not she carried any of Alzheimer’s illness’s genetic biomarkers.
There are dozens of genes which have been linked to elevated Alzheimer’s threat. A few of these genes have only a tiny little bit of affect over an individual’s probability of growing Alzheimer’s; others have rather a lot. One explicit gene variant, known as APOE4, has accrued a popularity as “the Alzheimer’s gene.”
Carriers of this APOE4 “Alzheimer’s gene” variant don’t all the time develop the illness — however coming from a deep skilled background in biotech, Nelson felt that the extra she is aware of about her Alzheimer’s threat, the higher outfitted she may be to make way of life modifications that may stave off Alzheimer’s or its signs.
Irrespective of how ready she felt she was for the outcomes, they nonetheless rocked her world. She discovered that not solely did she inherit one copy of the APOE4 variant from her mom’s facet of the household — she additionally inherited one from her father, making her a homozygous provider of APOE4.
“I did 23andMe, as lots of people are doing today, and sadly, it form of confirmed my worst fears as an alternative of assuaging them,” she advised Being Affected person in a latest LiveTalk. “I believe it took me a little bit time to swallow that tablet. However then, I’m a scientist, so I’m not going to simply sit again and settle for my doubtless destiny. I wished to determine what I can do about it.”
Study extra about how she determined to pursue genetic testing, what the method was like, how she felt when she received her outcomes, and most significantly, what she did subsequent. Watch the total dialog right here, or learn a transcript from the dialog beneath:
Being Affected person: You intentionally sought out to know your genetic standing. Inform us a little bit bit about that. What went into that call?
Nelson: Properly, I’m within the biotech trade, I’ve a Ph.D. in science, and I’ve been within the biotech trade for nearly 30 years now. Now, there are issues you are able to do— there are scientific trials and stuff. 5 – 6 years in the past, I used to not need to know as a result of there was nothing you could possibly do for those who have been discovered to hold it or susceptible to get it. They are saying you may eat healthily and you may train. I do these, however my mother did them too. I’ve watched the scientific trial area and know that they’re attempting to get individuals onto scientific trials earlier and that being a provider qualifies you for some scientific trials now. So, that’s a part of the explanation I made a decision to seek out out, nevertheless it was additionally partially as a result of I hoped I used to be solely going to hold one. I hoped it will assist alleviate among the stress and worry I carried with me, and sadly, it backfired. I discovered I did carry two, and it was earlier than my dad went down this street. I did 23andMe, as lots of people are doing today, and sadly, it form of confirmed my worst fears as an alternative of assuaging them.
Being Affected person: For individuals who haven’t gotten their genetic exams, how did you discover that info on 23andMe?
Nelson: They ship you a pleasant report with every kind of fascinating details about one million different issues, after which it has the ApoE4 variant. It says you carry the ApoE4 and have a considerably elevated threat for Alzheimer’s, and I’m like, “Ah, crap.” It’s as clear as day, and there’s this complete huge web page on it.
Being Affected person: Being in biotech, you’re nicely educated on genetics, most likely extra so than the typical particular person. However, you had two copies of ApoE4, not one, and also you didn’t anticipate that. So, how did you take care of that info, and the way did you course of it?
Nelson: It is extremely disappointing and discouraging and miserable at first. I believe it took me a little bit time to swallow that tablet. However then, I’m a scientist, so I’m not going to simply sit again and settle for my doubtless destiny. I wished to determine what I can do about it. So, I did extra analysis alone, on what you are able to do. I’ve gone on low-level rosuvastatin to lower ldl cholesterol. There are increasingly ties between ldl cholesterol buildup and Alzheimer’s, which has been identified to be extra useful for youthful of us. Simply issues like that.
“I believe it took me a little bit time to swallow that tablet.
However then, I’m a scientist, so I’m not going to simply sit
again and settle for my doubtless destiny. I wished to
work out what I can do about it.”
Being Affected person: You talked about scientific trials— have you ever joined any scientific trials for individuals who don’t have Alzheimer’s however have a genetic variant?
Nelson: I’ve received my eye on some firms. There’s a really thrilling firm known as Alzheon. Right here within the Boston space, they’ve wonderful section two knowledge in Alzheimer’s sufferers for what’s an oral tablet that may assist upstream. It helps stop the oligomerization course of from taking place within the first place and, hopefully, stop these tau tangles and amyloid plaque buildup from occurring within the first place. They’ve simply enrolled their section three trial in sufferers, and the primary readout needs to be in mid-2024. If they’ve good strong knowledge, they may open it as much as carriers like me in 2025. So, I’ve received my eye on watching firms like that which have doable new issues coming down the pipeline. There’s additionally an organization known as Cognito Therapeutics that I’m watching in San Francisco. That is very completely different— it’s virtually like a digital actuality headset that does listening to stimulation and visible gentle sensory results. It’s apparently breaking down these buildups in your mind. So, I’ve received my eye on issues I might be completely satisfied to strive. So, I’ll completely be part of when firms like that open up their trials to carriers.
Being Affected person: Sure, we’ve truly coated each of those firms. I need to discuss to you a little bit extra in regards to the science behind this as a result of, as a Ph.D., you clearly know greater than the typical particular person. May you inform us a little bit about what you realize about ApoE4, its interplay with ldl cholesterol, and why individuals with that genetic variant are predisposed to issues going incorrect versus somebody with out that gene?
Nelson: It’s a identified biomarker, proper? In order that’s a sign that for positive there’s a transparent tie between excessive ldl cholesterol and Alzheimer’s. So, nobody precisely is aware of the biology of Alzheimer’s, so plenty of it’s hypothesis. However, issues just like the ApoE4 biomarker have been discovered time and again to be a transparent tie. So, that’s why something you are able to do to maintain your ldl cholesterol down, which is clearly a cardiovascular factor as nicely, can solely be good for you and your mind.
Being Affected person: Studying about mind well being additionally means understanding how organic programs relate. That’s most likely the simplest strategy to perceive in your thoughts what the chance components are, proper?
Nelson: Every part within the human physique is related indirectly or one other. You are able to do all the fitting issues and nonetheless get a illness like Alzheimer’s due to a nasty genetic set of playing cards that was dealt to you.
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There are many relationships and indications that issues are threat components. However even for those who don’t have these threat components, you will get Alzheimer’s. And even in case you have all the chance components, you don’t essentially get Alzheimer’s. So, there’s additionally some genetic predisposition and luck that will get thrown into the combo.
Being Affected person: Discovering out that doubtlessly having plaque within the mind is one step additional than discovering your genetic standing. Do you need to strive the blood exams coming to market to seek out out?
Nelson: Actually, I don’t know if I need to discover out but. I’ve not as of now as a result of, as everyone knows, the injury to your mind begins 15 years or extra earlier than you’re symptomatic. I don’t need to know if my years are already being counted. If I needed to discover out if I needed to get that take a look at to enter a scientific trial that I assumed actually confirmed promise, that’s when I’ll discover out.
Being Affected person: Inform us a little bit bit about how issues have modified. Are you doing issues otherwise than you have been prior to now that you realize you have got ApoE4?
Nelson: Considerably, however no more than what all of us needs to be doing anyway, and that’s dwelling day by day to its best potential. I noticed my mother and father make the error of placing all the things off till they have been retired. You already know, I heard that excuse time and again: “Oh, I might like to go there. We’ll do it once we’re retired.” Then, by the point my dad retired, he retired to deal with my mother, so it was too late. So, I’m not going to make that mistake. I’m simply attempting to do no matter I need to do now as time permits. I’m additionally attempting to actively watch the Alzheimer’s area extra and see what I can do for myself and my household. However once more, all of us need to be dwelling as wholesome lives as doable. So, I might say it’s barely completely different, however not by that a lot.
Being Affected person: What would you say to these people who find themselves truly contemplating genetic testing? Would you advocate they do it or not?
Nelson: It will depend on their persona. Some individuals, in case you have the mindset that it’ll empower you to search for potential scientific trials or assist for your self, then by all means, go do it. If it’s going to take a seat in your shoulders and weigh you down the remainder of your years, maintain off till there’s one thing you realize and extra medication can be found in the marketplace. Individuals ought to wait till they’re in the fitting mindset they usually really feel there’s sufficient hope on the market for them to know that to not have this burden on them and attempt to do one thing about it.
This interview has been edited for size and readability.
Katy Koop is a author and theatre artist primarily based in Raleigh, NC.
