Written by Katie Cobb | January 20, 2023
By a 23andMe take a look at, Wendy Nelson, PhD, found that she carried two copies of the Alzheimer’s illness biomarker ApoE4 – the “Alzheimer’s gene”. It has modified the best way she thinks about mind well being.
When Wendy Nelson, Ph. D., found she carried two copies of the Alzheimer’s illness biomarker ApoE4, a genetic variant related to an elevated threat of Alzheimer’s illness, she drew on her profession in biotechnology to determine what to do subsequent.
When Nelson was older, her grandfather and mom had Alzheimer’s illness, as did her maternal aunt.
“So, my mother was at all times very afraid of getting Alzheimer’s, and he or she undoubtedly had it when she was very younger,” she mentioned, “Being affected person.” In actual fact, Nelson’s mom was recognized with Alzheimer’s illness in her mid-60s, and Nelson remembers seeing indicators of Alzheimer’s signs earlier than that.
This was her mom’s aspect of the household – however what about her father’s aspect? After her mom dies of Alzheimer’s illness in 2022, Nelson decides to pursue genetic testing. She was curious as as to whether she carried any of the genetic biomarkers for Alzheimer’s illness.
There are dozens of genes which have been linked to an elevated threat of Alzheimer’s illness. A few of these genes have little impact on an individual’s probability of growing Alzheimer’s illness. Others have loads. One particular genetic variant, referred to as APOE4, has gained a repute because the “Alzheimer’s gene.”
This APOE4 variant doesn’t carry the Alzheimer’s gene. At all times Get sick—however due to a deep skilled background in biotechnology, Nelson felt that the extra she knew about Alzheimer’s dangers, the higher ready she was to make life-style modifications that would stave off Alzheimer’s illness or its signs.
Regardless of how ready she was for the outcomes, it nonetheless rocked her world. She discovered that not solely had she inherited one copy of the APOE4 variant from her mom’s aspect of the household – she had additionally inherited one copy from her father, making her symmetric APOE4 provider.
“I did 23andMe, as lots of people do today, and sadly, it sort of confirmed my worst fears as an alternative of assuaging them,” she advised Being Affected person on LiveTalk just lately. “I suppose it took me some time to swallow that tablet. However then, I am a scientist, so I am not going to sit down again and settle for my potential destiny. I needed to know what I may do about it.”
Study extra about how she determined to pursue genetic testing, what the method was like, how she felt when she acquired her outcomes, and most significantly, what she did subsequent. Watch the complete dialog right hereOr learn a transcript of the dialog beneath:
Be affected person: I’ve intentionally sought to grasp your genetic situation. Inform us a little bit bit about that. What went into this determination?
Nelson: Effectively, I am within the biotech business, I’ve a Ph.D. in science, and I have been working within the biotech business for nearly 30 years now. Now, there are issues you are able to do — there are medical trials and stuff. 5 – 6 years in the past, I did not need to know as a result of there was nothing you could possibly do in the event you discovered you had it or have been susceptible to getting it. They are saying you’ll be able to eat wholesome and you may train. I do, however so does my mother. I’ve watched the medical trial house and I do know that they are attempting to get folks into medical trials early on and that being pregnant qualifies you for some medical trials now. So, that is a part of the explanation I made a decision to seek out out, however it was additionally partly as a result of I hoped to solely carry one. I hoped it will assist relieve a number of the stress and concern I carried with me, and sadly, it backfired. I came upon I used to be carrying two, and that was earlier than my dad went down that highway. I did 23andMe, as lots of people do today, and sadly, it sort of confirmed my worst fears as an alternative of assuaging them.
Be affected person: For individuals who have not had their genetic testing, how did you discover this data on 23andMe?
Nelson: they ship you a terrific report with every kind of fascinating details about 1,000,000 different issues then it has an ApoE4 variant. You say you carry ApoE4 and have a considerably elevated threat of growing Alzheimer’s illness, and I am like, “Uh, crap.” It is as clear as day, and there is a complete large web page on it.
Be affected person: Being in biotech, you might be effectively versed in genetics, maybe greater than the typical particular person. However, you had two copies of ApoE4, not one, and also you did not count on that. So how did you course of that data, and the way did you take care of it?
Nelson: It’s extremely irritating and irritating and irritating at first. I suppose it took me some time to swallow that tablet. However then, I am a scientist, so I am not going to sit down again and settle for my potential destiny. I needed to know what I may do about it. So, I did some extra analysis by myself, on what you are able to do. I went on a low degree of rosuvastatin to cut back my ldl cholesterol. There are increasingly hyperlinks between ldl cholesterol buildup and Alzheimer’s illness, which is thought to be extra useful for youthful folks. Simply issues like that.
“I suppose it took me some time to swallow that tablet.
However then, I am a scientist, so I am not simply going to sit down round
Return and settle for my potential destiny. I needed to
Discover out what I can do about it.”
Be affected person: You talked about medical trials — have you ever joined any medical trials for individuals who do not have Alzheimer’s illness however have a genetic variant?
Nelson: I’ve acquired my eyes on some firms. There’s a very fascinating firm referred to as Alzheon. Right here within the Boston space, they’ve glorious knowledge on stage 2 Alzheimer’s sufferers for what oral tablet would assist in the early levels. It helps stop oligomerization from occurring within the first place and, hopefully, prevents tau tangles and amyloid plaque buildup from occurring within the first place. They only signed up for his or her Part 3 trial in sufferers, and the primary learn ought to be in mid-2024. If they’ve good strong knowledge, they’re going to open it as much as carriers like me in 2025. So I am watching firms like which have potential new issues coming their manner. To work. There’s additionally an organization referred to as Cognito Therapeutics that I am watching in San Francisco. That is fully totally different – it is like a digital actuality headset that stimulates the auditory and sensory results of seen mild. It appears to interrupt down these build-ups in your thoughts. So, I’ve acquired my eyes set on the issues I would be very happy to strive. So, I will be completely concerned when firms like this open up their experiences to carriers.
Be affected person: Sure, we have already coated these two firms. I need to speak to you a little bit bit extra concerning the science behind this as a result of, as a PhD, you clearly know greater than the typical particular person. Are you able to inform us a little bit bit about what you realize about ApoE4, its interplay with ldl cholesterol, and why folks with this gene variant are inclined to do issues unsuitable versus somebody who would not have this gene?
Nelson: It is a recognized biomarker, proper? That is undoubtedly an indication of a transparent hyperlink between excessive ldl cholesterol and Alzheimer’s illness. Subsequently, nobody is aware of the precise biology of Alzheimer’s illness, so loads of it’s hypothesis. However, issues just like the biomarker ApoE4 have been discovered time and time once more to be an apparent hyperlink. So, this is the reason something you are able to do to maintain your ldl cholesterol low, which is clearly heart problems as effectively, can solely be good for you and your mind.
Be affected person: Studying about mind well being additionally means understanding how organic methods are linked. That is in all probability the best solution to perceive what threat components are in your thoughts, proper?
Nelson: All the things within the human physique is linked in a method or one other. You are able to do all the correct issues and nonetheless get a illness like Alzheimer’s due to a bunch of dangerous genetic playing cards you have been dealt.
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There are loads of correlations and indicators that issues are threat components. However even when you do not have these threat components, you could possibly develop Alzheimer’s illness. And even in case you have all the threat components, you will not essentially develop Alzheimer’s illness. So, there’s additionally some genetic predisposition and luck thrown into the combination.
Be affected person: Discovering out whether or not plaque could also be current within the mind is a step additional than discovering your genetic situation. Need to strive the blood exams coming to market to seek out out?
Nelson: Actually, I do not know if I need to know but. I have not performed it but as a result of, as everyone knows, harm to your mind begins 15 or extra years earlier than you’ve got signs. I do not need to know if my years actually counted. If I needed to discover out if I needed to take this take a look at to get right into a medical trial that I assumed was actually promising, that is once I would discover out.
Be affected person: inform us a little bit bit about how issues have modified. Are you doing issues in a different way than you probably did prior to now that you realize you’ve got ApoE4?
Nelson: To some extent, however no more than we must always all be doing anyway, and that’s dwelling every day to its best potential. I’ve seen my mother and father make the error of placing the whole lot off till their retirement. , I’ve heard this excuse over and over: “Oh, I would wish to go there. We’ll try this after we retire.” Then, by the point my dad retired, he’d retired to maintain my mother, so it was too late. So, I cannot make this error. I am simply attempting to do what I need to do now as time permits. I am additionally attempting to observe the Alzheimer’s illness house extra actively and see what I can do for myself and my household. However once more, all of us need to reside as wholesome a life as attainable. So, I’d say it is a little bit bit totally different, however not that a lot.
Be affected person: what would you say to these people who find themselves already contemplating genetic testing? Do you advise them to take action or not?
Nelson: It is determined by their character. Some folks, in case you have the mindset that it’s going to allow you to analysis potential medical trials or assist your self, then by all means, go and do it. If it will sit in your shoulders and burden you for the remainder of your years, cease till there’s one thing you realize and extra medicine are available on the market. Individuals ought to wait till they’re in the correct mindset and really feel there’s sufficient hope to know that there is no such thing as a such burden for them and attempt to do one thing about it.
This interview has been edited for size and readability.
Katie Cobb is a author and theater artist based mostly in Raleigh, NC.