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Duologue with Leslie Heaney
[Part 1] Alzheimer’s and Brain Health - feat. Dr. Kellyann Niotis
00:48:06
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- [00:05]
Leslie Heaney
Hello, everybody. This is Leslie, and you are listening to the interview with Leslie Heaney. June is Alzheimer's and Brain Awareness Month, and we are so fortunate to have Dr. Kellyanne Niotis with us here today who is a true expert in this space. She's the director of Parkinson's and Lew Body Dementia at the Institute for Neurodegenerative Diseases. She's also one of the first to do a fellowship in preventative neurology looking at risk reduction strategies for disorders like Alzheimer's, Lew Body and Parkinson's. She also managed the first Alzheimer's prevention clinic at Weill Cornell Medical Center. So she's a real, real expert in this space. Our conversation was so in depth that I divided this episode into two parts. So right now, you're listening to part one. Dr. Niotis and I talk about the stats around some of these disorders, Alzheimer's, Parkinson's, Lew Body, and how they're on the rise. We talk about symptoms to look out for that could be early indicators that you might develop one of these disorders years from now. And we talk about genetic testing. Who's a candidate for testing? And what are the pros and cons of testing? So that is part one. This is a really fascinating conversation. But before we get to that, just a few words from me about our sponsor. I'm so excited about this week's sponsor, the 10 Mile Distillery. 10 Mile is an American single malt distillery based in the Hudson Valley about 90 miles north of New York. And it is the maker of the award winning Little Rest Whiskey made through a slow distillation process with all New York state grains by master distiller Shane Fraser from Scotland. And when I say award winning, I mean it's earned a 95 out at the whiskey competition in San Francisco and in 96 at the New York International Spirits Competition. This is delicious. If you do not believe me about how delicious this is, the good news for you is that if you're in the New York area, you can go visit this incredible and beautiful distillery yourself. It's set among the most beautiful apple orchard with beautiful views of the mountains behind. Stop by for a leisurely tour or tasting or even enjoy an expertly crafted cocktail. They also have gin and vodka available. They also have this incredibly delicious Thai restaurant that is in residence there from Thursday through Sunday. To learn more about the distillery, you can Visit them at 10mile distillery.com theinterview. I should also mention that in honor of Father's Day, all orders made from today through next Wednesday, June 18, will receive 10% off if you put in promo code the interview at checkout. So go to www.tenmile distillery.com the interview to get that discount, that 10% off. I promise you you will not be disappointed. So thank you again to 10 mile. And with that, here is Dr. Kellyanne Niotis. Dr. Niotis. How do I do with that? I did not pronounce the doctor's name correctly. Are my first time around. But I'm so happy to see you and so grateful to you for coming to talk to me today. Because although we're having this conversation in May, this episode will come out in June. And June is Alzheimer's and Brain Awareness Month.
- [03:27]
Dr. Kellyanne Niotis
Amazing.
- [03:28]
Leslie Heaney
So it's a very timely and hot topic. And I know so many of us are interested in learning more, not just about, you know, what these diseases do and what we can do, God forbid we're ever diagnosed with them. But what I'm so excited about talking to you about today is what we can do to prevent. So you specialize, right, in neurodegenerative disorders, right. And there are a few specifically that you specialize in. Do you want to talk to us about what those are?
- [03:59]
Dr. Kellyanne Niotis
And yeah. So thanks for having me. First and foremost, I'm so excited to talk about this topic. It is near and dear to my heart and I feel so passionate about educating the world about this. I think there's a lot of misinformation and a lot of people don't realize that these types of diseases can start years before the first obvious symptoms and that there are lots of things in our power that we can actually do to reduce our chances of coming down with one of these diseases. So as you said, I do specialize in neurodegenerative diseases, but I focus on preventive neurology, which is, of course, reducing risk for these diseases. So neurodegenerative diseases, big word, really, what it means is the loss of nervous tissue. And in my case, I really focus on central or brain related neurodegenerative diseases like Alzheimer's, Parkinson's, Lewy body. And in these cases, there's actual loss of brain tissue. The tissue that is lost in the brain depends on what disease it is. But we can see that on imaging studies.
- [05:08]
Leslie Heaney
Well, you and I were talking a little bit before we started, and when you mentioned that neurodegenerative disorders, or let's use Alzheimer's as a common example, actually means the loss of brain tissue, I shared with you that when in high school when they came to talk about Someone would come to talk about alcohol and drugs and they said, this is your brain, this is your brain on drugs, or that alcohol actually kills brain cells. Yes, it's a terrible bummer to hear that, to think about the link between the two. And I know we're going to talk about some of those risk factors and some of the. Our lifestyle or habits that can contribute to some of these disorders, but just to think about it as something that's actually killing or breaking down your brain cells is a really. Just a way that I hadn't really thought about Alzheimer's before. So you talked about those three as kind of being the most common. Can you give us some statistics around how many people you know in the US or globally suffer from some of these disorders?
- [06:08]
Dr. Kellyanne Niotis
So a lot of the statistics will kind of break this down into the dementias and the more movement disorder type. So that would be Parkinson's versus the dementias, which are Alzheimer's, vascular dementia, Lewy body dementia. So dementia is this umbrella term. Lots of different diseases and disease processes can fall under this umbrella. Alzheimer's, as I mentioned, is the most common form of dementia. That's about 60 to 80% of all dementia cases is Alzheimer's. So it's by far the most common.
- [06:43]
Leslie Heaney
And is it. Sorry to interrupt you, but isn't it true that you wouldn't actually be able to diagnose what type of dementia you have unless you were to look at the brain in an. Like an autopsy or sort of after the person is dead? Or are there other. Or are you able to definitively diagnose it while the person is alive?
- [07:03]
Dr. Kellyanne Niotis
Great question. So the gold standard, of course, is an autopsy, which we're not going to do, or brain biopsy, which we're not going to do on people who are living. I don't know who would sign up for that. But there are ways to gain a diagnosis without actually collecting brain tissue. You know, classically and traditionally, what neurologists would do would be a spinal tap or a lumbar puncture, looking for various proteins in the spinal fluid that could indicate, for example, Alzheimer's disease pathology. These proteins would be amyloid and tau proteins. There are also some imaging studies. There are radio tracers that can tag amyloid proteins and tau proteins in the brain and show plaque buildup or tangle buildup in the brain. So that really is highly suggestive of Alzheimer's disease. And then more recently, over the last couple of years, it's become possible to test for these proteins in the blood of people to help us diagnose these diseases. But I will comment on, and I know we'll get more into some of these stats, that what's really tricky about it is while, you know, we can identify Alzheimer's disease pathology a lot of times on autopsy, there's a lot of mixed pathology. It's very common to not just have Alzheimer's pathology, but to also have Lewy Body pathology.
- [08:31]
Leslie Heaney
Oh, interesting.
- [08:32]
Dr. Kellyanne Niotis
There was actually a study that showed, you know, it was talking about how doctors are just not so great at diagnosing these diseases. And it says, stated that 50% of the cases of Alzheimer's disease on autopsy had enough pathology to be considered Lewy body dementia, and vice versa. So there's just so much overlap. And one of the reasons I love preventive neurology is because we really do get to view these diseases more collectively as I think that they should be viewed, which is, you know, they're all related and on a spectrum, and they share a lot of similar risk factors and etiologies that help us prevent all of them instead of viewing them more in isolation, like traditionally, we have to when we're treating something that's so different. For example, Parkinson's disease is really a movement problem, and it takes a specific expertise in treating that versus Alzheimer's disease. But when we think about prevention, the beauty is we get to think about it more collectively.
- [09:38]
Leslie Heaney
Interesting. And Parkinson's is. You mentioned it's more movement based. It. Does it also have some of the same memory loss components that Alzheimer's and Lewy body?
- [09:48]
Dr. Kellyanne Niotis
Yeah.
- [09:48]
Leslie Heaney
Is it Lew Body? Lewy body, yes.
- [09:51]
Dr. Kellyanne Niotis
Lewy body. There's lots of names for dementia with Lewy bodies. Lewy body dementia, but we'll call it Lewy Body dementia. Yeah. So Parkinson's disease is the second most common neurodegenerative disease. It impacts about 1.1 million people in the United States. But what's interesting about it is it's the fastest growing neurodegenerative disease, the fastest growing neurological disease. So disease incidence from 1990 to 2015 doubled, and it's expected to double again by 2050. So it's expected to impact 25 million people worldwide by 2050, which is pretty massive.
- [10:31]
Leslie Heaney
And. And what are. What is that being attributed to? Is it environmental factors like diet or. I feel like everything goes back to the gut. Microplastics.
- [10:39]
Dr. Kellyanne Niotis
I mean, a lot of it has to do with environmental exposures. I believe we don't fully understand what's driving the increasing incidence of disease, but our environment is, in my opinion, one of the leading reasons why we're seeing such an increase in prevalence of it. But as you said, it is a movement problem. So it primarily impacts our ability to perform fine motor movements, like things like buttons, zippers, picking up a coin from a grant from the ground. It can lead to tremors. That's what most people associate when they think about Parkinson's disease. But you actually don't need to have a tremor to have Parkinson's disease. And stiff muscles, shuffling, gait, those are the common symptoms. But Parkinson's disease, again, is a progressive disorder. And as the disease goes on, it's not uncommon for new symptoms to develop. A lot of these are non motor symptoms, meaning things like acting out your dreams, anxiety. And for about 80% of people with Parkinson's disease, that also includes cognitive impairment.
- [11:50]
Leslie Heaney
When you say acting out your dreams, does that mean, like, you're actually in, you're sleeping and you're falling and your, your arms are flailing? Is it that kind of acting at your.
- [12:01]
Dr. Kellyanne Niotis
Yeah, it's a great question. So I know this statistic will scare, like all of America, so I apologize, but it's really important to know this. So REM sleep behavior disorder, which is acting out your dreams, yelling, thrashing. I'm not talking about, like some sleep talking or, you know, a little tossing and turning in your sleep. This is very obvious and often violent enactment of dreams having. That is very common in Parkinson's and Lewy body dementia. These are diseases of what we call alpha synuclein pathology. That's the type of toxic protein that's associated with it. What's really interesting is that REM sleep behavior disorder, this dream enactment, can predate Parkinson's in Lewy body by years.
- [12:52]
Leslie Heaney
So I'm sorry, so this is a, this, if you, if you're doing that, that means it could be sort of an indicator or a precursor to you developing.
- [13:01]
Dr. Kellyanne Niotis
Not just an indicator, it's an extremely high indicator. It's over a 90% positive predictive value that you will go on to develop one of these alpha synucleinopathies. So it's highly likely. There are other things that can trigger REM sleep behavior disorder, like certain drugs that we use for depression and anxiety, for example. But it has a very, very high predictive value for the eventual alpha synuclein pathology or a diagnosis of Lewy Body or Parkinson's.
- [13:35]
Leslie Heaney
Why is that not a question? When you go to have your physical, you know, they're like, are you bleeding out of your eyes? I mean, literally, my doctor goes through no one's asked me if I'm ever screaming in my sleep. I feel like, you know, this is an important. You know, it's an important thing to know whether or not you would have that kind of an indicator.
- [13:55]
Dr. Kellyanne Niotis
This goes back to a big issue in medicine, but especially in neurology, which is. And really one of the things that drove me to neurology. There's a joke among doctors that will say, like, why would you ever go into neurology? You just diagnose devastating diseases and there's nothing that you can do about it. Unfortunately, that's a very common mindset in the field that, you know, you can't do anything about a diagnosis of Parkinson's or Alzheimer's disease. So why do testing or why do screening for these diseases early on when there's very, very little that you should do? And you should just eat better, sleep well, and exercise.
- [14:38]
Leslie Heaney
Right.
- [14:38]
Dr. Kellyanne Niotis
And, you know, there's so much more nuance to that. And I hope we'll talk about all that soon in this talk. But, yeah, it doesn't sit well with me. And we could do better for our patients.
- [14:48]
Leslie Heaney
Oh, my gosh. For sure. Well, I can't. I can't wait to get to that part of our conversation. But I took you off piste when we were talking. I asked you sort of, how prevalent is Alzheimer's?
- [14:56]
Dr. Kellyanne Niotis
Yes. You didn't even get to talk to that part. I know.
- [14:58]
Leslie Heaney
You did talk about Parkinson's.
- [14:59]
Dr. Kellyanne Niotis
Yes.
- [15:00]
Leslie Heaney
And the numbers around that and how it's very alarmingly rising. Right. Where are we with Alzheimer's? How many cases in the U.S. how many cases worldwide? And what do those numbers look like?
- [15:12]
Dr. Kellyanne Niotis
Yeah, great question. So very timely question. There was just a study a couple of weeks ago that came out with the new estimates for Alzheimer's disease prevalence in the United States. So it's up to 7.2 million. Previous estimates were 6.9 million. So higher than we thought it would be. But. And that's in the United States. What is even more alarming to me is that there are 300 million people living with preclinical Alzheimer's disease. That means they are not exhibiting any obvious symptoms, but they're harboring insidious markers of Alzheimer's disease related brain changes. So there are high, high likelihood to develop Alzheimer's disease in the near future.
- [16:01]
Leslie Heaney
So right now there are 300 million people, and these people are walking around not knowing.
- [16:06]
Dr. Kellyanne Niotis
Could be. Knowingly.
- [16:07]
Leslie Heaney
Could be our friend Dimitri, who's helping us here today. Could be us. Could be any of us. And not Know, they're just what we do possess, those markers. And we're going to talk more about what those markers are and what we can do to kind of identify if we are one of those 300 million people. Now, we talked about screaming in your sleep. Yes, is a risk factor, but there are other sort of early warning signs of both diseases, right, Of Parkinson's and of Alzheimer's, that you could exhibit some of these symptoms. Well, well, in advance of ever actually getting what we consider sort of the, you know, the identifiers or symptoms of actually having Parkinson's, meaning, you know, memory loss and things like that. These are other sort of early indicators that we might want to be aware of. And would you walk us through some of those?
- [16:58]
Dr. Kellyanne Niotis
Yeah. So, like I mentioned, you know, while these diseases are distinct, there are a lot of commonalities between them. Some common risk factors among all three of them. Loss of sense of smell. Unfortunately, the brain is a little bit cruel, so we'll lose our ability to smell pleasant odors before we lose our ability to smell unpleasant odors. Changes in mood, so depression and anxiety are very common. And they, of course, are non specific, just as loss of sense of smell is non specific. So you have to really look at these things in the right context of the right person. Insomnia or other sleep disturbances are also really common. And then when we think more specifically about the Parkinson's realm, or we spoke about acting out the dreams, constipation is a big one. That also can occur years before the onset of symptoms. Skin changes like dandruff are also really common changes to your handwriting. People will comment that their handwriting has started to become small, or they're used to really fancy or pretty script handwriting and they started to print because they couldn't continue, or their handwriting was not legible in script anymore. Changes to walking speed, that's actually a very common one that I hear in hindsight, that family members will comment on, like, for years they kept dragging or trailing behind the rest of us. Excessive fatigue for really no reason, needs to nap. Bladder issues are also pretty common, meaning urinary frequency and urgency. And again, it's so hard when you say these things because they sound so nonspecific, but you really have to put them in the right context of, of the person in front of you and what their risk is. And then when we think about Alzheimer's disease, in addition, having trouble finding the right word, that is really common as we get older. It's really common for women in. In perimenopause. But unfortunately, word word finding difficulty is an early sign of Alzheimer's disease. So it's very difficult to discern there repeating yourselves or telling the same story and then difficulty following conversations. Another one that you know, might sound a little unusual, but difficulty performing activities. So things like, you know, following a recipe can be more difficult for people.
- [19:33]
Leslie Heaney
So we talked about this a little bit before we started, but I was laughing. I happened to, in preparing for this talk, I looked at some of these risk factors and the loss of smell. I thought, gosh, I have friends who lost smell from COVID So I'm sure they're already panicked to hear this. That's one of the risk factors. But for women of my ripe age, things like insomnia, mood swings, having trouble finding words are very much part of kind of the perimenopause playbook. But you were saying, which I think is so smart and everyone who's listening, I think, should I. It's one of the first things I want to do. I think I'm already too late because I'm in the thick of things right now with my own already being symptomatic on a whole host of other fronts. But is to get a baseline well in advance of being perimenopausal. Right. Where does somebody go to get that? What does that look like? And do we all need to have a neurologist like we have a gynecologist or an eye doctor? I mean, what are we doing?
- [20:33]
Dr. Kellyanne Niotis
Great question. And I wish that we were at that point in our medical system and our healthcare system where we could offer that the sad reality is that if you do go to a neurologist and you're pretty healthy, you're not going to get a pretty in depth evaluation in terms of your cognitive function. Just because there's such a deficit in specialists to treat cognitive disorders that there's very few that focus on prevention. And I, I personally think that's a shame and I want to change that. And I'm pioneering this field so more people, hopefully more neurologists and, and other. Honestly, primary care doctors and internists can get on board with early screening. But a lot of this unfortunately would not be covered by insurance and would have to be done privately so you can find people to do it privately. But I do think it's so important to have a cognitive baseline because everyone has their own inherent strengths and weaknesses. For me, I think I have undiagnosed dyslexia. I reverse numbers so regularly and you know, I struggle with certain tasks that relate to repeating numbers. In a reverse order, if someone gave me that task when I. When I'm 75, I'm not going to do well on that task, but I never would have done well on that task. So it's so important to know where you're starting at. The other caveat here is that, you know, a lot of people are really, especially people listening to this podcast, are overall highly educated and health consumers, and they probably read a lot. Otherwise, how else would they be listening to this podcast right now? But I say that because your baseline is different, depending on what types of information you consume, how much you read, what your education is like. And people who have a higher education or have just a lot more experiences, whether that their job is intellectually stimulating and so forth, will do really well on cognitive testing. And that doesn't mean that if we tested them again and they still did, quote really well, there wasn't a change in their baseline. So everyone is really starting out at a different point, and understanding what. Where you are over time longitudinally is crucial. It also is true that certain cognitive domains are impacted more by things like, you know, poor sleep and perimenopause versus Alzheimer's disease pathology versus Lewy body pathology. They're all going to start to impact different parts of our thinking.
- [23:20]
Leslie Heaney
Okay, so risk factors. I do want to talk about lifestyle risk factors, but can we talk about kind of genetic risk factors or things that are out of one's control? And is it family history of the disease? Is it close? Does it have to be a close relative? What does that look like? And when should someone perhaps seek genetic testing to see if they carry a gene for.
- [23:47]
Dr. Kellyanne Niotis
Great question.
- [23:47]
Leslie Heaney
Is there. Is there a Parkinson's gene? I know there are. Okay, so I'll let you. I'm not going to answer your question. Ask more questions while I answering my first question.
- [23:56]
Dr. Kellyanne Niotis
Yeah, so. So many questions. I love all the questions. Okay, so first I should say age is the number one risk factor. That might be obvious, but it is important to recognize that the older you get, the higher risk that you are for these diseases.
- [24:10]
Leslie Heaney
What, and what is that sort of. Is there a common age for the onset of Alzheimer's or for Parkinson's or.
- [24:17]
Dr. Kellyanne Niotis
Yeah. So most cases of Alzheimer's start after the age of 65.
- [24:22]
Leslie Heaney
Okay.
- [24:23]
Dr. Kellyanne Niotis
There are some rare exceptions around 10 or so that start before that age. And then for Parkinson's, the age of onset's a little bit earlier. So it's around 60 years old. But again, I think it's about 10%, actually start under 50 and usually these are related in both Alzheimer's and Parkinson's to rare genetic causes.
- [24:47]
Leslie Heaney
And if you get it when you're younger, is it more aggressive? Because with certain cancers, that's the case if you get them younger, that they often are of a more aggressive type. Is that the same for Alzheimer's?
- [25:02]
Dr. Kellyanne Niotis
It's a slightly different animal. So I think, you know, big picture. One of the big challenges in neurodegenerative diseases and why we haven't been able to identify a cure for Parkinson's for Alzheimer's is because the disease is very different from person to person. And these cases of earlier onset disease probably follow a very different pathological pathway than these diseases that start, we'll say, more sporadically or later in life.
- [25:35]
Leslie Heaney
Okay, so you have a family member who has it. Do you get the genetic test?
- [25:41]
Dr. Kellyanne Niotis
Yeah.
- [25:42]
Leslie Heaney
What is that test and what is that gene?
- [25:44]
Dr. Kellyanne Niotis
Yeah. So having a family history.
- [25:46]
Leslie Heaney
Okay.
- [25:47]
Dr. Kellyanne Niotis
Does increase your risk for all of these neurodegenerative diseases. Really? What is that?
- [25:53]
Leslie Heaney
Direct, like parent, sibling, or aunt or uncle, grandparent. How is it anybody.
- [25:59]
Dr. Kellyanne Niotis
It's really a close relative.
- [26:01]
Leslie Heaney
Okay.
- [26:02]
Dr. Kellyanne Niotis
And so by close relative, that means a first degree relative. So mom, sibling, so forth. So that's really what we're talking about. And in the case of Alzheimer's disease, maybe we'll just talk about that and then we could talk about the genes. So in the case of Alzheimer's disease, without a family history, your lifetime risk of Alzheimer's disease is somewhere between 10 and 15%.
- [26:24]
Leslie Heaney
Okay.
- [26:25]
Dr. Kellyanne Niotis
If you do have.
- [26:26]
Leslie Heaney
Which is not insignificant.
- [26:27]
Dr. Kellyanne Niotis
It's not insignificant. Yeah, it's, you know, at 10 out of every hundred people.
- [26:31]
Leslie Heaney
Yeah.
- [26:32]
Dr. Kellyanne Niotis
So if you do have a family member that I'm talking about, first degree family member, your relative risk for Alzheimer's disease increases by 30%, which does sound like a lot. But just putting into context what relative risk means, because that's kind of a medical term and people get confused when they see, you know, increases risk by like 25%. And people don't really fully understand or appreciate what that means. So at 65 years old, your risk for Alzheimer's disease without a family history is around 2%. If you have a family history, that risk is 30% higher, which is only 2.6%.
- [27:14]
Leslie Heaney
I see. So when you say 10 to 15%, are you. That's just. That is total.
- [27:20]
Dr. Kellyanne Niotis
No, that's total lifetime risk.
- [27:21]
Leslie Heaney
That's total lifetime. And it's that. So when you talk about that 65, is it that, you know, it's sort of like if you, for example, prostate cancer, I know, is extremely prevalent in elderly men. If you, if you live past 85.
- [27:33]
Dr. Kellyanne Niotis
Yes.
- [27:33]
Leslie Heaney
You're very likely you're. You might get prostate cancer. Right. Because you're. Just because of your, Your lifespan or the length of your lifespan is. Is that similar to Alzheimer's?
- [27:42]
Dr. Kellyanne Niotis
Okay, so then in your 70s, your risk without a family history is around 5%, but with a family history, it's 6.5%. So as you get older, the risk, of course, gets higher with a family history. So that's just a little explanation for what we're talking about when we use these percentages. And I'm sure people read things on the Internet and social media that say, you know, this increases your risk for cancer by whatever.
- [28:08]
Leslie Heaney
Not being a mathematician.
- [28:10]
Dr. Kellyanne Niotis
Yeah.
- [28:10]
Leslie Heaney
When you just said 30% on top of the 10, I was thinking, wait a minute, is it 40% of people will develop Alzheimer's for sure. 40% of. For people who have a family history. So I'm glad that we cleared that up. Okay.
- [28:21]
Dr. Kellyanne Niotis
Yeah. But either way, family history is a big deal. These diseases are polygenic or meaning that there are multiple different genes that contribute to one's risk. That said, there are certain genes that contribute greatly to risk.
- [28:40]
Leslie Heaney
Okay.
- [28:41]
Dr. Kellyanne Niotis
One of those genes is called. And we're talking about Alzheimer's and Lewy Body. Now, one of those genes is called apoe, okay, which stands for apolipoprotein E. And this gene comes in different forms or variants or alleles, as Doctors will say. Apoe 2.
- [29:01]
Leslie Heaney
I remember alleles from. Yeah, I couldn't tell you what it is, so I can't wait for you.
- [29:06]
Dr. Kellyanne Niotis
To Mendel's Pea Plants or. So we're talking about tall ones and short ones here. So it's actually very much like that. It's very simple. So everyone has two copies of this gene, and this gene comes in three different alleles, as I said. ApoE2, ApoE3, ApoE4. And we get one copy from our mom, one copy from our dad. Everyone gets two copies. That makes up our genotype. So Most people, about 65% of the population, have the normal or wild type ApoE, which is ApoE3. They have two copies of that, so they're called ApoE33. About 25% of the population carries one copy of ApoE4. ApoE4 is the high risk variant, meaning if you have this, you're at a higher risk of Alzheimer's disease, Lewy Body dementia, and cardiovascular disease. We'll ask, we'll talk more about that and then APOE 44 is pretty rare. About 2% of the population has that. That increases your risk for these diseases More so than Apoe4 would one copy. And then there are some people who are lucky and they are, they carry an ApoE2 allele. And again, this is pretty rare. Less than 5% of people have this. That's actually a protective variant. It's called a longevity gene. People with this gene have better cognitive health span, meaning their cognition's better with older age, and they have a lower risk for all neurodegenerative diseases, primarily Alzheimer's, Lewy body.
- [30:43]
Leslie Heaney
Now, how, I mean, is Willard Scott's like Smuckers, those that live? Over 100 of those people have been tested. I mean, is that. Who has. How do we know about this link and longevity?
- [30:54]
Dr. Kellyanne Niotis
And there's lots of longevity genes, so this is one of them. You know, on the contrary, everything is not always good. Like people with this gene can have age related macular degeneration, so they got to get their eyes checked. But regardless, in general, it's a good blessing to have the APOE 2. That does not mean, and I really want to emphasize that if you have an APOE 2 or if you have two copies of APOE 3, that you can't get Alzheimer's disease or Lewy Body dementia, there are plenty of people who do have it. This is just one of the most significant risk factors that we're talking about. So people with these other genotypes still can and do get the disease. That's important to know. People always ask like, well, you know, be more specific about how much APOE4 increases my risk. And it's really hard to do that because the impact of APOE4 on risk really varies based on a lot of different factors. Ethnicity is a big1. So APOE4 is common in several different ethnic groups. It's pretty widespread. But the impact of APOE4 in someone who's black is actually less than someone who's white. So if you're white with APOE 4, it's more harmful to you, which is just there's so many intricacies here that we fully don't understand what other protective genetic factors they may have inherited with this gene and so forth.
- [32:23]
Leslie Heaney
So you've got the three, you've got the four, you've got the two. How does someone go get tested to see whether they, which one they have? Is it a blood test?
- [32:34]
Dr. Kellyanne Niotis
Yes. Or a saliva test?
- [32:36]
Leslie Heaney
Okay. And who is, who should do it? Well, of course, yes, thank you for asking that. Question, who should do? I mean, I feel like I want to know If I've got a 2 or a 4 or 3, even though I don't have a family history. So who should be doing it? And then where does someone go to have it done?
- [32:51]
Dr. Kellyanne Niotis
Yeah. So I obviously am a huge proponent of genetic testing because I feel that genes help us understand more about someone's inherent biology and help us be more personal in the care that we can provide them. It's more precision medicine based care that we could give when we really understand what genetics are involved. Why? And I'll answer your question about where and who should do it, but why? Let's say for this APOE gene, why do I care about this? So what is the gene? Like, that's the question. Like, why are we testing it? Like, because it's telling us something about someone's biology. So APOE is, as the name says, a lipid protein. Lipoprotein. It is a lipid and a protein. It is a protein that shuttles lipids or fats throughout the body. It does it peripherally in our bloodstream, but it also does it in our brain. APOE is very involved with transporting cholesterol between different types of brain cells. And when people hear cholesterol, they think like, oh no, that's bad. But cholesterol is not bad. Like, we need cholesterol for lots of things. The brain needs cholesterol for very important cognitive processes, making neurotransmitters, keeping our cell membranes nice and fluid and happy. But of course, having too high of a level of cholesterol in the wrong places can be a problem. So what happens in people with this APOE4 gene is that they're not very good at transferring cholesterol between two specific types of brain cells. And the cholesterol can start building up in one particular type of brain cell. And when cholesterol builds up in a brain cell, it can become very toxic and lead to the death of that cell. So it's very important for people who have this gene to treat their cholesterol. They also have a higher risk for heart disease and heart attacks. So it's very common for people with this gene to know that they've had high cholesterol for a long time. We can see that in their blood. And treating their cholesterol will help a both lower their cardiovascular disease risk and lower their risk for Alzheimer's disease.
- [35:19]
Leslie Heaney
If you have high cholesterol, you should be treated for not just because of the cardiovascular risks, but because of the cognitive ones.
- [35:28]
Dr. Kellyanne Niotis
For Sure. I mean, now, as of July 2024, the Lancet Commission, which is this very notable medical journal which has published since 2017 about potential modifiable risk factors for dementia, they finally acknowledged that elevated LDL C or LDL cholesterol is a modifiable risk factor for dementia. So I've known this for a long time, and it makes absolute sense knowing that Apoe 4 carriers have high cholesterol, and of course, we should treat their cholesterol. It's pro inflammatory. To have high cholesterol. Having plaque build up in the vessels that feed the brain and through the neck or through the brain, having cholesterol accumulate there is going to deprive the brain of important nutrients, oxygen and so forth. So that's obviously a problem. And then, as I mentioned, the issues that are inherent to people with this gene, which really involve cholesterol transport throughout the brain. So you really want to make sure that you get their cholesterol ideal. Yeah.
- [36:33]
Leslie Heaney
You know what's really interesting, or at least I think it's interesting, is that, you know, the spikes in cholesterol also happen to women during.
- [36:41]
Dr. Kellyanne Niotis
For sure.
- [36:41]
Leslie Heaney
Perimenopause.
- [36:42]
Dr. Kellyanne Niotis
For sure.
- [36:43]
Leslie Heaney
And I go to this wonderful GP here in New York, and he's a terrific guy. He's actually. He's a cardiologist, sort of. That's his main specialty. But I've always had great cholesterol. My cholesterol just was off the charts. And he said, I don't understand what's happening. You know, maybe you need to. You need to watch your diet and then, you know, maybe put you on something. And then when I started having all the other. Which unfortunately are all the symptoms, Alzheimer's and Lew Body, Lewy Body, excuse me. I also learned that high cholesterol or your cholesterol spiking is also a symptom of perimenopause. And since I've been on hormone replacement, I went back from my. And he's like, your cholesterol. And I. Anyway, so it's interesting to me, you know, as you talk about all the. The side effects, too, of perimenopause with brain fog and things, the relationship just between cholesterol and your brain, for sure.
- [37:38]
Dr. Kellyanne Niotis
And just to comment. I know we need to talk about this genetic question, but it's just so important to hear. Women are at a higher risk for Alzheimer's disease, full stop. And there are lots of potential mechanisms by which women are at a higher risk of this disease. And one that is talked about most commonly or most frequently Is, you know, the hormonal changes that happen during perimenopause. There's this steep decline in female reproductive hormones, and the brain isn't, for lack of a better way of describing it, isn't really able to adapt to that rapid decline in hormones. But, you know, it's. We. We love talking about estrogen and progesterone, but. And mainly estrogen, there's less research on the progesterone, although I think it's personally very important for the brain. What's, like, less talked about in this is that it's not just hormone changes that happen during perimenopause. As you mentioned, changes in cardiovascular disease risk, like changes in the way that you can handle insulin and. Or handle glucose load and how sensitive you are to glucose and how your insulin signaling is. As you mentioned, changes to your cholesterol levels happen during perimenopause, changes to your body composition. And yes, they're all related to hormonal changes, but all independently change our risk for one of these diseases. So it's really hard to disentangle just the hormone piece from it, from all of the other sleep changes that happen. Like, all of these things are known risk factors for these diseases, and they all happen to women right at that time when Alzheimer's disease pathology is most likely to develop.
- [39:27]
Leslie Heaney
So tell us, you have a family history, you want to get tested, or you just are listening to this podcast or your person interviewing you and is immediately going to get tested to find out if I'm a three or four or two. Where do you go to have those tests done?
- [39:43]
Dr. Kellyanne Niotis
Yeah. And, you know, sorry, we're going to take one last step back, because I don't want to neglect Parkinson's disease.
- [39:51]
Leslie Heaney
Oh, yes.
- [39:52]
Dr. Kellyanne Niotis
So there are some genes that put you at a higher risk for Parkinson's disease. The two big ones are called LARK2 and GBA. GBA also puts you at a higher risk for Lewy Body Dementia. These genes tend to be more prevalent in people who are Ashkenazi Jewish, but also seen in Northern African Arabs, Berbers and Southern Europeans, specifically Italians and Spaniards.
- [40:18]
Leslie Heaney
Interesting. And Ashkenazi Jews also have a high risk for breast cancer, for sure. Interesting.
- [40:23]
Dr. Kellyanne Niotis
Yeah. In fact, 10% of Ashkenazi Jews carry a GBA gene, which is really wild. And a lot of them learn about it through preconception genetic screenings. Because this gene also, if you have two, both spouse or both partners have a copy of this gene, you develop something called Gaucher syndrome, which is a syndrome that affects children. So it's often found. But what they don't realize is that, you know, carrying one copy of the gene isn't going to affect your child, but it does impact your Parkinson's disease risk.
- [40:55]
Leslie Heaney
So it's, those two genes are the genes that you can, can be tested for and you, you would want to be tested for them. If you have a family history, you.
- [41:04]
Dr. Kellyanne Niotis
Can be tested for a lot of genes. Like a lot. There's about a panel of somewhere between 45 and 65 genes. There are, as I mentioned, so many genes that are involved in neurodegenerative diseases. But looking at population based data, these are the ones that are most common and definitely the best studied of them.
- [41:24]
Leslie Heaney
Okay. And we should mention again, I'm not a doctor, I just play one on tv. But that just because you carry a gene for something doesn't mean that that gene is going to be turned on.
- [41:34]
Dr. Kellyanne Niotis
Absolutely not.
- [41:35]
Leslie Heaney
It's almost like you have that keyhole. But your lifestyle and other factors, environmental factors and stress, other things are kind of what, open that lock sometimes. Right. Or they, we're trying to figure out, I guess with some, with research what exactly opens the lock for sure. It's not definitive that you will in fact develop one of these disorders for.
- [41:55]
Dr. Kellyanne Niotis
These particular, for these particular genes. No, these genes are not your destiny. They increase your risk. But there's lots of things that we can do to change the cards that we were dealt.
- [42:06]
Leslie Heaney
Right. Okay, so you want to get tested?
- [42:09]
Dr. Kellyanne Niotis
Yeah.
- [42:10]
Leslie Heaney
Where you go, I'm, I'm getting all 40 to 60.
- [42:13]
Dr. Kellyanne Niotis
You're like, I'm ready. So I first want to emphasize that testing is a really personal decision. You know, we'll talk about this more soon. But stress is a huge, huge component for the onset of these diseases. And mental health, emotional well being are really big modifiable risk factors. We know depression is a big risk factor. And I bring this up because I think that for some people, understanding their risk, whether that's genetic risk or biomarker risk, actually does more harm than good. And I think it's really important for people to recognize who they are and if knowing this information would be empowering or if it would be crippling. Because the last thing you want to do is ruminate persistently on your genetics and feel like there's, you know, feel stuck or feel like I'm doomed. I have seen people get tested, even unintentionally through things like 23andMe when that was a thing, they'd find out that they had two copies of Apoe 4. And honestly, it affected their life in such a negative way. I've also seen people have the opposite response where they learned about it and they really changed their life. They stopped drinking alcohol, they cut out sugar and so forth. So, you know, genetic information is really a personal decision. And I also want to emphasize that it is important to know that while we do have this genetic information non discrimination act which protects against discrimination in terms of health insurance and employment based on genetic results, it does not protect against life insurance, long term care insurance and disability insurance. So if you do have a genetic risk factor, know that it may impact your ability to apply or be eligible for certain types of insurance later in life.
- [44:20]
Leslie Heaney
Stop it. But how would they, how would the insurance company know that?
- [44:26]
Dr. Kellyanne Niotis
Well, they have access to your medical records. So if you order the test through your doctor.
- [44:31]
Leslie Heaney
Okay, so, but, but if you. I guess what I. I guess through your gp. But if you were going to go to someone sort of your secret black market genetic tester, that would not be something that they would necessarily have access to. Although their questionnaire asks in theory. Right.
- [44:51]
Dr. Kellyanne Niotis
They ask. Right. They screen and they say, do you know that you have a gene for X, Y, Z?
- [44:56]
Leslie Heaney
Wow.
- [44:58]
Dr. Kellyanne Niotis
So it is important to know and an important consideration. You know, it's not maybe not a reason for everyone to not test, but it is really important to know what the implications of genetic testing are.
- [45:12]
Leslie Heaney
And if people, you know, go to and you know you're going to share with us some places where people could look to find a place, it's important that they ask those questions, right. About disclosure and the records and all that stuff. Right. When they're having their consultation with whatever company or doctor or service is doing the testing.
- [45:33]
Dr. Kellyanne Niotis
Yeah. I personally recommend doing this testing with your doctor.
- [45:38]
Leslie Heaney
Okay.
- [45:38]
Dr. Kellyanne Niotis
Because does it go out to like a quest.
- [45:41]
Leslie Heaney
Do they sell, is it a blood work panel that they.
- [45:44]
Dr. Kellyanne Niotis
Or there's a blood work panel. There's a couple of different companies that'll do it. One is called invitae that has a really elaborate panel for both of these genes. So it's variable. Why I say go to your doctor to do it? Because it's a clinical grade test and you really should get genetic counseling around the results.
- [46:04]
Leslie Heaney
Okay.
- [46:04]
Dr. Kellyanne Niotis
So that you really understand what they mean for you, in what context, what they mean for your family and so forth. There are ways to do testing, you know, on your own. For example, 23andMe tested for LARK2 GBA APOE4.
- [46:20]
Leslie Heaney
But then that company also has your.
- [46:23]
Dr. Kellyanne Niotis
Yes, your. For sure.
- [46:25]
Leslie Heaney
And it's not the case for anybody that is being tested that those companies.
- [46:28]
Dr. Kellyanne Niotis
Have your genetic, they do have your genetic information. You can, I mean, they typically have some sort of waiver where you have to sign if you want them to store it or if they could use it for.
- [46:38]
Leslie Heaney
Right.
- [46:39]
Dr. Kellyanne Niotis
Research and so forth. But regardless, your information.
- [46:42]
Leslie Heaney
Well, it's interesting. This isn't 23andMe being.
- [46:44]
Dr. Kellyanne Niotis
Yeah.
- [46:45]
Leslie Heaney
Sold. And then it went. Who's going to be, who's going to own that?
- [46:49]
Dr. Kellyanne Niotis
So proprietary information, if anyone is listening.
- [46:53]
Leslie Heaney
That'S what they're selling. That's the value. Right. Of that company.
- [46:55]
Dr. Kellyanne Niotis
Delete your personal information from 23. And B, if anyone's listening because you just don't know where that information will end up.
- [47:02]
Leslie Heaney
Yeah. Yep. That brings us to the end of this episode of the interview. A huge thank you to Dr. Kellyanne Niotis again for joining. As I mentioned, this is part one of the episode. I look forward to releasing part two on Friday. I also want to thank our sponsor, 10 Mile Distillery. Don't forget that you have until this Wednesday, June 18, for a 10% discount on all orders of their award winning Little Rest Whiskey and other spirits. Just go to their website, www.tenmiledistillery.com.
- [47:40]
Dr. Kellyanne Niotis
And.
- [47:40]
Leslie Heaney
You can also put in the promo code the Interview to get that 10% off when you check out. Thank you all so much for listening. If you enjoyed this episode, please rate or view us on Apple Podcasts or Spotify or wherever you get your podcasts. I will release a new episode on a different topic next week. So until then, this is Leslie and thanks for listening to the interview.