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

Written by Katie Cobb | January 20, 2023

By means of 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 danger 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 she or he undoubtedly 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 facet of the household – however what about her father’s facet? 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 were linked to an elevated danger of Alzheimer’s illness. A few of these genes have little impact on an individual’s chance of growing Alzheimer’s illness. Others have rather a lot. One particular genetic variant, referred to as APOE4, has gained a popularity because the “Alzheimer’s gene.”

This APOE4 variant doesn’t carry the Alzheimer’s gene. All the time 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 way of life modifications that might 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 facet 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 nowadays, and sadly, it form of confirmed my worst fears as an alternative of assuaging them,” she instructed Being Affected person on LiveTalk just lately. “I suppose it took me some time to swallow that capsule. 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 received her outcomes, and most significantly, what she did subsequent. Watch the complete dialog right hereOr learn a transcript of the dialog under:

Be affected person: I’ve intentionally sought to know your genetic situation. Inform us somewhat bit about that. What went into this resolution?

Nelson: Nicely, I am within the biotech trade, I’ve a Ph.D. in science, and I have been working 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 did not wish to know as a result of there was nothing you would do if you happen to discovered you had it or had been susceptible to getting it. They are saying you possibly can eat wholesome and you’ll train. I do, however so does my mother. I’ve watched the scientific trial area and I do know that they are attempting to get individuals into scientific trials early on and that being pregnant qualifies you for some scientific trials now. So, that is a part of the rationale I made a decision to search out out, nevertheless it was additionally partly as a result of I hoped to solely carry one. I hoped it might assist relieve a number of the stress and worry 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 highway. I did 23andMe, as lots of people do nowadays, and sadly, it form 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 info on 23andMe?

Nelson: they ship you an ideal report with all types of attention-grabbing details about one million different issues then it has an ApoE4 variant. You say you carry ApoE4 and have a considerably elevated danger of growing 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’re nicely 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 info, and the way did you cope with it?

Nelson: It’s totally irritating and irritating and irritating at first. I suppose it took me some time to swallow that capsule. 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 alone, on what you are able to do. I went on a low degree of rosuvastatin to scale back my ldl cholesterol. There are an increasing number of hyperlinks between ldl cholesterol buildup and Alzheimer’s illness, which is thought to be extra helpful for youthful individuals. Simply issues like that.

I suppose it took me some time to swallow that capsule.
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 scientific trials — have you ever joined any scientific trials for individuals who do not have Alzheimer’s illness however have a genetic variant?

Nelson: I’ve received my eyes on some corporations. There’s a very attention-grabbing firm referred to as Alzheon. Right here within the Boston space, they’ve wonderful 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 only signed up for his or her Section 3 trial in sufferers, and the primary learn ought to be in mid-2024. If they’ve good strong knowledge, they will open it as much as carriers like me in 2025. So I am watching corporations like which have potential new issues coming their means. 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 received my eyes set on the issues I might be very happy 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 lined these two corporations. I wish to speak to you somewhat bit extra concerning 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 somewhat bit about what you recognize about ApoE4, its interplay with ldl cholesterol, and why individuals with this gene variant are likely to do issues flawed versus somebody who would not have this gene?

Nelson: It is a identified 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 plenty 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, for this reason something you are able to do to maintain your ldl cholesterol low, which is clearly heart problems as nicely, can solely be good for you and your mind.

Be affected person: Studying about mind well being additionally means understanding how organic programs are linked. That is most likely the simplest option to perceive what danger elements are in your thoughts, proper?

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

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

There are plenty of correlations and indicators that issues are danger elements. However even when you do not have these danger elements, you would develop Alzheimer’s illness. And even when you have the entire danger elements, you will not essentially develop Alzheimer’s illness. So, there’s additionally some genetic predisposition and luck thrown into the combo.

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 attempt the blood exams coming to market to search out out?

Nelson: Truthfully, I do not know if I wish to know but. I have never completed it but as a result of, as everyone knows, injury to your mind begins 15 or extra years earlier than you’ve gotten 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 scientific trial that I assumed was actually promising, that is once I would discover out.

Be affected person: inform us somewhat bit about how issues have modified. Are you doing issues in another way than you probably did prior to now that you recognize you’ve gotten ApoE4?

Nelson: To some extent, however no more than we should always all be doing anyway, and that’s dwelling every day to its biggest potential. I’ve seen my dad and mom make the error of placing every part off till their retirement. You realize, I’ve heard this excuse again and again: “Oh, I might wish to go there. We’ll do this once we retire.” Then, by the point my dad retired, he’d retired to deal with my mother, so it was too late. So, I cannot make this error. I am simply attempting to do what I wish to do now as time permits. I am additionally attempting to observe 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 dwell as wholesome a life as attainable. So, I’d say it is somewhat 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 persona. Some individuals, when you have the mindset that it’s going to allow you to analysis potential scientific 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 recognize and extra medicine are available on the market. Individuals ought to wait till they’re in the proper mindset and really feel there’s sufficient hope to know that there isn’t 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 primarily based in Raleigh, NC.

Leave a Comment