Biotechnology Lead Wendy Nelson on coexistence with ApoE4, the Alzheimer’s disease gene

Written by Katie Cobb | January 20, 2023

By a 23andMe check, 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 all the time very afraid of getting Alzheimer’s, and he or she positively had it when she was very younger,” she mentioned, “Being affected person.” The truth is, 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 if she carried any of the genetic biomarkers for Alzheimer’s illness.

There are dozens of genes which were linked to an elevated threat of Alzheimer’s illness. A few of these genes have little impact on an individual’s probability of creating Alzheimer’s illness. Others have so much. One particular genetic variant, known as APOE4, has gained a popularity 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 might stave off Alzheimer’s illness or its signs.

Irrespective 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 service.

“I did 23andMe, as lots of people do lately, and sadly, it form of confirmed my worst fears as a substitute of assuaging them,” she informed Being Affected person on LiveTalk lately. “I assume it took me some time to swallow that capsule. However then, I am a scientist, so I am not going to take a seat again and settle for my potential destiny. I needed to know what I might 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 just a little 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 wish to know as a result of there was nothing you possibly can do for those who discovered you had it or had been vulnerable to getting it. They are saying you may eat wholesome and you may train. I do, however so does my mother. I’ve watched the medical trial area and I do know that they are making an attempt to get individuals into medical trials early on and that being pregnant qualifies you for some medical trials now. So, that is a part of the rationale 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 might assist relieve a few of the stress and concern I carried with me, and sadly, it backfired. I discovered I used to be carrying two, and that was earlier than my dad went down that street. I did 23andMe, as lots of people do lately, and sadly, it form of confirmed my worst fears as a substitute 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 an incredible report with all types of fascinating details about one million different issues then it has an ApoE4 variant. You say you carry ApoE4 and have a considerably elevated threat of creating Alzheimer’s illness, and I am like, “Uh, crap.” It is as clear as day, and there is a entire huge web page on it.

Be affected person: Being in biotech, you might be properly versed in genetics, maybe greater than the common particular person. However, you had two copies of ApoE4, not one, and also you did not anticipate that. So how did you course of that data, and the way did you cope with it?

Nelson: It’s extremely irritating and irritating and irritating at first. I assume it took me some time to swallow that capsule. However then, I am a scientist, so I am not going to take a seat again and settle for my potential destiny. I needed to know what I might do about it. So, I did some extra analysis by myself, on what you are able to do. I went on a low stage of rosuvastatin to scale 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 individuals. Simply issues like that.

I assume it took me some time to swallow that capsule.
However then, I am a scientist, so I am not simply going to take a seat 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 haven’t got Alzheimer’s illness however have a genetic variant?

Nelson: I’ve acquired my eyes on some corporations. There’s a very fascinating firm known as Alzheon. Right here within the Boston space, they’ve glorious knowledge on stage 2 Alzheimer’s sufferers for what oral capsule would assist in the early phases. It helps forestall oligomerization from occurring within the first place and, hopefully, prevents tau tangles and amyloid plaque buildup from occurring within the first place. They simply 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 corporations like which have potential new issues coming their approach. To work. There’s additionally an organization known as Cognito Therapeutics that I am watching in San Francisco. That is utterly completely different – it is like a digital actuality headset that stimulates the auditory and sensory results of seen gentle. It appears to interrupt down these build-ups in your thoughts. So, I’ve acquired my eyes set on the issues I might be more than pleased to attempt. So, I will be completely concerned when corporations like this open up their experiences to carriers.

Be affected person: Sure, we have already coated these two corporations. I wish to speak to you just a little bit extra in regards to the science behind this as a result of, as a PhD, you clearly know greater than the common particular person. Are you able to inform us just a little bit about what you already know about ApoE4, its interplay with ldl cholesterol, and why individuals with this gene variant are inclined to do issues fallacious versus somebody who would not have this gene?

Nelson: It is a recognized biomarker, proper? That is positively 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 a variety 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, because of this something you are able to do to maintain your ldl cholesterol low, which is clearly heart problems as properly, can solely be good for you and your mind.

Be affected person: Studying about mind well being additionally means understanding how organic methods are related. That is in all probability the best option to perceive what threat elements are in your thoughts, proper?

Nelson: All the things within the human physique is related in a method or one other. You are able to do all the best issues and nonetheless get a illness like Alzheimer’s due to a bunch of unhealthy genetic playing cards you had been dealt.

<< Contemplating genetic testing for Alzheimer's illness?
paying off
Interactive affected person information. >>

There are a variety of correlations and indicators that issues are threat elements. However even when you do not have these threat elements, you possibly can develop Alzheimer’s illness. And even if in case you have the entire threat elements, you will not essentially develop Alzheimer’s illness. So, there may be 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. Wish to attempt the blood exams coming to market to seek out out?

Nelson: Actually, I do not know if I wish to know but. I have not accomplished it but as a result of, as everyone knows, injury to your mind begins 15 or extra years earlier than you might have signs. I do not wish to know if my years actually counted. If I needed to discover out if I needed to take this check to get right into a medical trial that I assumed was actually promising, that is after I would discover out.

Be affected person: inform us just a little bit about how issues have modified. Are you doing issues in another way than you probably did prior to now that you already know you might have ApoE4?

Nelson: To some extent, however no more than we must always all be doing anyway, and that’s dwelling every day to its biggest potential. I’ve seen my mother and father make the error of placing every thing off till their retirement. You understand, I’ve heard this excuse time and again: “Oh, I might prefer to go there. We’ll try this once we retire.” Then, by the point my dad retired, he’d retired to care for my mother, so it was too late. So, I cannot make this error. I am simply making an attempt to do what I wish to do now as time permits. I am additionally making an attempt to look at the Alzheimer’s illness area extra actively and see what I can do for myself and my household. However once more, all of us wish to stay as wholesome a life as doable. So, I’d say it is just a little bit completely 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 will depend on their character. Some individuals, if 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 is going to sit in your shoulders and burden you for the remainder of your years, cease till there’s one thing you already know and extra medication are available on the market. Folks ought to wait till they’re in the best mindset and really feel there may be sufficient hope to know that there isn’t any 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.

Leave a Comment