Please, folks, these scientific geniuses and the family they are researching are from Colombia, not Columbia.
60
...but then the plaques are not the cause of Alzheimer's are they? They are a reaction to an immune response to things that are causing it. It can be prevented, and even reversed.See Dr Dale Bredesen, UCLA neurologist, and Apollo health/Recode.
14
Nice if we can prolong independent life in everyone/anyone. But we have or shall have a population problem and a human problem in that we seem to like living in the rob Peter, pay Paul world-- capitalism we call it.
I am thinking that college 3education may have little to do with benefitting mankind (perhaps the opposite). The woman's whose exceptional never dying cells Henrietta Lacks made all kinds of research possible that had not been before. This woman's mutation may help solve the Alzheimer problem. It is a horrible "wasting" disease -- altho I am not sure that the individual suffers that much, which provides income for many people and shareholders!
3
Since the woman has lots of amyloid proteins in the brain, but does not suffer from Alzheimer's because of little Tau seems to point the finger at Tau as the trigger rather than amyloid.
13
According to pg. 263 of the book "Genome", "APO-E4's effect seems to be more severe among women than men. Not only do more women than men get Alzheimer's, but females who are APO-E4/APO-E3 are just as much at risk as those who are APO-E4/APO-E4. Among men, having one APO-E3 gene reduces risk."
I wonder if there have been any studies on people with abnormal sex chromosome conditions who also have APO-E4 genes. Examples of the former are Turner syndrome females (only one X), females having triple X syndrome, XYY syndrome males (formerly mislabelled as "supermales"), and Klinefelter syndrome males (with XXY sex chromosomes). In those with the APO-E4 genes, is the X chromosome the active cause of higher risk of Alzheimer's? Is the Y chromosome the active cause of lower risk of Alzheimer's?
6
MGH is an extraordinary institution. As a native New Yorker, I used to think NYC had excellent medical centers. When I learned that MSK and NY Pres are 50 years behind in treatment of tumors, I hightailed to Bean City. This research at MGH is just another example of their outstanding initiatives.
23
Amyloid seems to be the equivalent of foot prints or scar tissue, a clue to battles and processes that have gone on in the brain, but not the source of the disabling changes. It's unfortunate that so much of research got stuck on trying to get through this single door, and that research funding was funneled in one major direction - - but it looks as if research has broadened. With new tools, it may well be that the process will be unraveled and some preventative measures developed in the next 15-20 years. Of course this family's genetic heritage may be very different from that of the usual victim of Alzheimer's. Onset may perhaps be triggered by infections overtime, as suggested in other articles out there.
What I like about this story: learning about the person whose body had the magic formula to keep her healthy.
32
The high cholesterol finding in certain people was interesting. By controlling cholesterol levels in a large swath of the population, are we increasing the incidence of Alzheimer's? Law of Unintended Consequence? So many parts of our complex bodies seem to be related.
39
Well, fingers crossed. My mother has three siblings. She and her older and one of her younger siblings developed dementia (we haven't had a diagnosis of Alzheimers for any of them) in their early 80's - her younger brother is still okay (he's 82) but we are all nervous for him. And for ourselves (we being myself, my brother and my first cousins).
12
@RMS
You might want to check out the Alzheimer Prevention Registry.
9
Two thoughts.
1. Could the CRISPR gene editing system be used to "insert" this mutation into an at-risk person's genome? I would imagine that if so, there are a lot of people who will be trying this on their own.
2. I enjoyed this line from article...and the use of the word "Consulted."
"Dr. Quiroz consulted Dr. Joseph Arboleda-Velasquez, who, like her, is an assistant professor at Harvard Medical School (he is also Dr. Quiroz’s husband). "
15
@Phil; We're all bound by consultation protocol.
Dr. mignon
2
"A drug or gene therapy would not be available any time soon because scientists first need to replicate the protective mechanism found in this one patient by testing it in laboratory animals and human brain cells."
Like so many others, I have seen Alzheimer's close up in my family. I'm not sure there aren't candidates right now who would be happy to step to the front of the line to do some real-world testing and potentially leapfrog this long timeline.
27
@Paul in NJ
You might want to check out the Alzheimer Prevention Registry.
10
Given the prevalence & cost of Alzheimer's Disease worldwide, it is unfortunate that the last 15 years have yielded so few new therapies to prevent or delay the onset of cognitive decline in those with genetic vulnerability.
It is clear that anti-amyloid agents are not the answer. This new discovery offers hope to people with a strong family history of dementia. Indeed, the causation of many illnesses appears to lie in how certain genes are activated or deactivated. Since the pathology of Alzheimer's takes decades to culminate in a clinical finding of dementia, we are now in a race against time. Will we find a way to prevent Alzheimer's in the large cohort of baby boomers who are entering the age range when symptoms usually first appear?
Every American should be urged to seek out research studies of Alzheimer's. The more subjects we can study, the sooner we may have answers to this tragic condition.
13
@Doctor B; Tau has been on the radar for some time. The findings described here are quite interesting, as you say.
3
My mom suffered from this. I watched her decline for 7 years. Though she did not become aggressive as a consequence of the disease, it was absolutely horrible at the end.
Godspeed to those working on this and any other promising solution to this suffocating disease.
46
Potentially the keys to one of the most significant medical breakthroughs of this century. Alzheimer's is a largely silent epidemic. It also one of the cruelest of diseases. So nice to be reading about truly important work.
67
Thanks to Ms. Belluck for reporting this important information. The patients and donors, as well as Dr. Lopera, and now other dedicated scientists, are true heroes! Society is grateful for all your important efforts in this fight against such a devastating illness.
37
The Mayo Clinic is awaiting results on a study where they are testing the hypothesis that Alzheimer's is basically diabetes type 3. Meaning, reduced uptake of glucose by brains cells, due to insulin resistance, is associated with cellular decline and death. This leads to the tangles and plaques seen in many AD patients-- but it is not the cause. The treatment is simply insulin nasal spray. Many countries have a fraction of the AD rate seen in this country, even among their elderly. Could it be the sugar and carbohydrate rich diets that are normal in our population? What if the simplest of answers was the correct one?
29
@Borat Smith
This is an oversimplification. Diabetics have higher iincidence of dementia and also Alzheimer's. Vascular dementia due to diabetes can precede and overlap with Alzheimer's. The suggestion that high unregulated blood sugar is the contributing pathogenic factor to Alzheimer's is not supported by science at this time.
35
DNA is some seriously complex stuff. I'm amazed we're making such progress in unraveling the mysteries.
12
Another UNIVERSITY research study points the way to new therapeutic avenues.
Support universities. Support basic research.
156
Thanks so much for reporting on this. I would be very interested to see future articles that follow up on the research that this finding inspires.
30
So glad to read this encouraging news, Colombia has more to offer to the world than its drug exporting reputation and violence. Many wonderful, smart and hard working people with great talents, oh and they have great cyclist too!
35
There is a video on YouTube about this large Colombian family with early Alzheimer disease. It is very sad but beautiful how family members take care of relatives with AD
Search on YouTube for
Columbian family with early Alzheimer disease”
15
This is fascinating and wonderful news. De. Francisco Lopera started this with his brain collections and now decades later these other two doctors are using his study and information that might lead to a cure. Just phenomenal scientific work. Bravo to all involved.
57
Good to see ongoing discussion relevant to whether we as a society lost 15 years of potentially productive research because grant proposals had to be based on 'existing research citations...' most of which were focused on plaque being the proximate cause of dementia...
38
@nsalzman
I couldn't agree more. I just did a geriatric psychiatry CME class on line. Nothing has changed in the material or treatment options for Alzheimers in the 18 years since I completed a geropsych fellowship. Plaques and maybe tangles and likely biomarkers have been a long, unproductive detour due to the grant community being so stuck on the amyloid hypothesis to the exclusion of other ideas. This article was exciting to read. Finally, a breakthrough!
18
This reminds me of the case of Henrietta Lacks whose cervical cancer cells became an immortal cell line used ever since taken in scientific research. She was never compensated in her lifetime.
31
@julia Why should she - or anyone - who advances science be compensated?
7
@Mary Bullock
Why on Earth not, enough seems to be squandered
on trivial things and dubious government projects.
Those helping ease the burden of disease in the world are worth their weight in gold.
11
@Mary Bullock
it would be good if they had even told mrs. lacks that they were using her cells for research. like for her to give consent. well the Tuskegee men (university there )gave all those men syphillis and GC to see how they reacted to having it. (they were African American men.
8
I am not a doctor or any of these types of researchers - some contents here and many comments below are above my head.
But the comment about this woman not getting many years of full education as a negative sign kind of upset me.
The fact of the matter that this woman raised 4 kids show she is at least cultured in her ways.
I live in Bogotá and Colombians always make fun of us calling them colUmbians. (One writer below has misspelt the name, hence this observation)
While not related, folks in this region of Antioquia - to many Colombians - they are Texans of Colombia.
They are very proud folks and most of the time they are Antioquians first and Colombians second.
14
@Neil The author was probably thinking in terms of the Nun Study, which revealed that in a huge cohort of women, those who had written the most comprehensive essays as novices turned out not to develop dementia when they were elderly (even though their brains were loaded with plaque), while those who wrote only simple essays of a few sentences tended to get dementia by then.
Chances are, if the woman described in this article had been able to attend school she would have performed very well indeed!
20
@Neil It's not a negative. They're saying that her protection from dementia did not come from educational stimulation so it must be in her own biology.
FTA:
She said the woman, who raised four children, had only one year of formal education and could barely read or write, so it was unlikely her cognitive protection came from educational stimulation.
“She has a secret in her biology,” Dr. Lopera said.
30
Its a shame they didnt elaborate on this point which I think caused a misunderstanding.
There has been new research that suggests that doing “brain exercises” like solving puzzles or doing heavy duty math equations may stave off the effects of Alzheimers.
They are by no means suggesting this woman is unintelligent or uncultured. Just that her excellent cognitive health is unlikely to be linked to a lot of abstract puzzle solving.
33
Very informative article! Thanks to all the researchers, especially Dr. Francisco Lopera and Dr. Quiroz! Let’s speak up and support Science!
33
@Mari
Based on the researchers's names, I would guess they, or someone in their family, was an immigrant. Hmm. They don't seem to be raping and murdering people. Bravo to these researchers.
50
@Me
What do you mean by that?
1
@Carlos
It's a reference to Trump denouncing South American immigrants as rapist & murderers.
Pity you won't be back to read my comment, and will nurture resentment against the wrong person.
10
When residency I worked on a lot of neurodegenerative cases. Amyloid is not the cause of alzheimers, the only reason we keep hearing about it is because pharmaceutical companies have been barking up the wrong tree for decades with, of course, no results. Amyloid and tangles are the effects (the junk left behind) of some yet poorly understood neuronal metabolic derangement. Trying to treat amyloid deposition once its there is like trying to awaken a dead mummy. Unfortunately, the study of neurodegenerative disordersyou is extremely difficult since you don't get brains from someone you know will in the future will develop the disease, you get the brain of people that died from it when, of course, the damage is already done!!!
41
@Ed I think that's an unfair criticism. Virtually nothing is known about the causes of Alzheimer's disease. The amyloid plaques were one of the few things people had to go on. Of course they understood that the plaques might be an effect rather than a cause, but treating symptoms can be better than nothing. What else were they supposed to do? It would have been irresponsible not to put a lot of effort into trying to treating the plaques, even though the chances of success were unknown. Meanwhile research on other aspects of the disease has been continuing.
7
@Ed
her tau levels were high though.
1
The lead should read "...pathologic features...".
"Neurologic" features refer to clinical findings.
6
There was a nun in the Nun’s Study who had evidence of Alzheimer’s when her brain was studied after her death at an old age. But she never exhibited dementia.
I think I remember that at the time it was surmised that her intelligence and used of intellect had protected her, as she was much more focused intellectually than the other nuns in the study who did exhibit dementia.
14
@Jean
The sisters of St. Francis in Rochester MN have been donating their brains for decades although I don't know if the study still continues.
12
The APOE4 gene may be an ancient protective gene, but the increasing and ubiquitous presentation of AD in our modern world means that epigenetics (or diet, lifestyle, exposure to toxins) must play a role. I'm currently reading Dr. Dale Bredesen's book (The End of Alzheimer's) and don't see a downside to changing to a different lifestyle that MAY help people not express their APOE4 predisposition toward AD. I certainly won't be eating refined carbs, sugar, processed food or seed oils anymore. No downside in getting exercise and using our brains more. Better than just waiting for the "inevitable."
16
@Kathy Meyer There are two essential fatty acids in certain seed oils, whose names I learned in a nutrition course decades ago, linoleic and linolenic acids. There shouldn't be a downside to consuming polyunsaturated seed oils. Sugar might raise the level of the sugar-protein compound that binds with the APOE gene to cause ill effects, or might not. This article says nothing about the role of diet in the illness, or where the protein plus sugar compound comes from. Most likely, our bodies make the stuff from our own everyday protein and blood sugar, regardless of diet. Our ancestors gave us the ability to digest and derive energy from carbs long ago---we aren't just carnivores. Water is thin gruel, rocks are too chewy, a balanced diet without fear of processed foods works for most of us.
16
@Garlic Toast: Hope you mean with fear of, or without use of, processed foods.
1
I believe our genes are a greater determination of our health, as well as our personality, than most of us realize.
They may well be the determining factor causing some of us to be gay or transgender. They may determine whether we are religious or atheistic; introverted or outgoing; racist, prejudicial, sadistic, or sexual abusers.
If this is true, when we learn the impact of the all mutations of all the genes, and how to modify them, we may be able to finally make homo sapiens a responsible, sane species.
It is an area of science worthy of spending greater effort.
16
@Richard Phelps
You seem to be advocating for eugenics.
5
@Richard Phelps
You may enjoy a recent intelligence squared debate on this exact topic. Go to IQ2US.com. The debate is entitled "parenting is overrated."
2
@Richard Phelps It's fairly easy to get an accurate estimate of heritability of any common disease with twin studies. It would be easy to determine heritability of the personality and other traits you mention though the vagueness of some of the categories would greatly decrease the precision of any estimate. The hard part is figuring out which genes and why. Even if you know which genes need to be edited for disease therapy, doing that is mostly impractical at this point. So you need to know also exactly what the gene, or perhaps many genes, each do, so that you can concoct a treatment.
2
Ad is one etiology of dementia. There are several others.They aren’t synonymous.
Ad can’t be diagnosed in vivo. There is no treatment,
Try to get things straight.
4
Great
So in 25 years this finding MAY help people?
2
@Jake Well, it may not be in time for us, but think of the benefit for your children and grandchildren.
6
@Jake
Hey, Jake, some of lived in a time where there weren't microwaves. There wasn't instant gratification. How long does it take for a sapling to grow into a mature tree? Years. Plant them and your children and grandchildren will enjoy them. It isn't always about yourself.
20
Interesting to see natural selection at work in the genome. Once a mother and father have raised their children to the age of independence, they become dead weight if their tribal productivity drops. A gene like APOE 4 leads to dementia and the likelihood that they will become prey to other animals and face a propitious death before they become a burden on the tribe. Good for the tribe, bad for the individual.
The absence of APOE gene entirely leads to elevated cholesterol and a propitious early death by cardiovascular disease. So, again good for the tribe and survival of the species.
4
Not quite. There is a loss for the species when an individual dies at an age she could be assisting in raising grandchildren, peaking in a career, even running for president.
22
@Hilary Kitasei Spot on! No one lives, or dies, in a social vacuum. Social life is not a zero sum game, but an exercise in navigating complexity. I'm going to paraphrase, and mis-attribute (by reason of lapsing memory), a phrase I read in one of Franz de Waal's recent books: "A monkey on its own in the forest is a dead monkey." The premature absence of an older relative is not in any way a benefit for the group, unless, of course, that older relative shows up to Thanksgiving dinner wearing a MAGA hat...in which case you are welcome to say, go forth, please, to the forest on your own, we'll be right there behind you...we promise.
49
@john we are a social species that has also evolved to grieve. Grief is very unproductive. So it's highly unlikely that Alzheimer's has developed as some supposed benefit to society.
2
I am in awe of the dedicated Columbian physicians who pursued this research in spite of dangerous conditions, in order to provide the world with such valuable information! I hope they and other scientists are given financial support in these times of reduced grants.
94
@ml
Actually (there's a very good PBS program on this family) the members of the family and the history of the disease were tracked using church records dating back more than a century! American drug companies were very interested in this cluster as it provided a way to test drugs in a group of people, who were going to but had not yet developed Alzheimers.
4
There are multiple risk factors like aging, genetic, head trauma etc that can contribute to dementia. I don't think that the answer to why a person did not get Alzheimer can conclusively be attributed to a single factor in a single person.
5
@Girish Kotwal: It apparently can, here, but this is an unusual kindred, and we must wait to see whether the APOE3 Christchurch binding to the glycoprotein is a factor in more widespread cases.
2
Amazing work and stands to have profound ramifcations for treatment for all Alzheiimer's patients.
One correction: The statement that the mutation has its effect by "minimizing the binding of a particular sugar compound to an important gene" in not accurate. The mutation greatly reduces the binding of the APOE3 protein (the gene product) - to the sugar structure. This distinction is important because developing drugs that block the binding to a gene (which is deep in the cell nucleus) is very hard. The good news here is that the binding of APOE3 to the sugar happens on the surface of the cell - which is readily accessable to many classes of therapeutics.
73
@Savvy Wow, thanks for that! I always marvel at the sort of incredibly smart thinkers who are present on these NYT comment sections. I learned something from the article, and then learned more from your comment! Win and win again!!! Never stop learning!
35
@David
Thank you David. This forum is important for exchanging ideas from a wide range of perspectives.
9
@Savvy
The writer of the article should include what you wrote here - it is much more specific and clear. thank you .
9
Support the sciences!
41
I hope these people are getting paid well for their participation in this research.
12
@Claire Wilson Again, I ask, who compensation? It is sad that you would even think that.
She needs to get a patent lawyer and find a way to patent this gene. It will make her and her family rich beyond measure. If she does not, Big Pharma will do so, if you think insulin is expensive wait till you see the cure for the Alzheimers cure.
21
@Tibby Elgato Good point. Countless fortunes were made on Henrietta Lacks. Her family got nothing.
11
@Tibby Elgato No one should "profit." Expenses covered and a healthy salary.
2
@Mary Bullock: Highly ethical but hopelessly unworldly comment, unfortunately.
3
This is wonderful news.
4
What? Wait a minute. These immigrants discovered something important? I thought they were all rapists, takers and criminals?
It doesn't add.
70
When my very wonderful father had the Alzheimer’s and could no
longer remain at home and had to go into a nursing home, my
mother and I took turns visiting him, she one day, me the next, where we shaved him, toileted him, brushed his teeth,
cut his nails, saw to it that he was eating correctly, had on the right clothes and comforted him when he became agitated.
The nursing home -- an expensive one with an excellent reputation--talked a good game, but frequently fell down on the job, so for the next two years, we took on the job that we knew right from the start would essentially be ours.
People frequently think of nursing homes and health care for the
elderly as largely matters of money, but in actuality it is a great deal more than that.
96
@A. Stanton
Sadly, so very true.
10
@A. Stant
If they considered the care you provided as part of their functions, you should have received financial credit.
Too often anymore, these institutions even tell the families to provide the care they're "not able to provide."
It's a blessing you were able to care for your father. And you deserve credit for every ounce of that caring.
9
@A. Stanton
All you get from an aged care facility is a bed for the patient and a potential good night's sleep for the carers.
Everything else is false advertising designed to separate a family from it's money & extend a life which, for all intents & purposes, is over.
15
Doesn't it seem that the path to the cure for every disease is not in studying the sick but in studying the healthy.
Every disease can be probably cured the same way, find the person in the family that never got cancer though it be prevalent in that family. That is the real laboratory the human laboratory.
We need to study the world, maybe this would unite the world, and show the world we are almost 99 percent all the same.
We need see in which parts of the world certain diseases are more prevalent, and do certain lifestyles preclude you from certain diseases. For instance i would like to know if Vegans have lower risks of certain diseases. We need a world wide data base that looks into this. And if they need people to help collect the data i volunteer my time, as would many...it isn't always about the money its about the volunteers. Volunteers can move mountains.
13
“...studying the healthy not the sick.” Well, you need both, obviously for comparison. And we are only beginning to be able to use genetics in an expansive search. Oath due to faster lab methods and use of supercomputers to analyze the data. . It took the Colombian doctor decades to collect 300 diseased brains. Getting the samples is critical - good samples, with comprehensive history. Then developing the the lab work takes years. And it is not usually so simple that one gene affects the disease...it is usually many genes working in various combinations.
10
In my training as a physician and scientist, I had a mentor who always urged me to study the "outliers" - patients whose clinical course was atypical. That approach has now born fruit in our search for a treatment for this terrible disease.
In cannot be understated how remarkable this finding is. To have a person with their brain full of amyloid who is essentially cognitively normal is breathtaking. Uncovering the biochemical reason for this is finding is stunning!
Now comes the even harder part of seeing if we can translate this revolutionary scientific finding into a safe and effective medicine. That will take at least 10 years and 100's of millions of dollars. God's speed to the scientists.
216
I've already read this article twice today because unlike the constant barrage of political news, this is about something progressing forward for the good of everyone.
258
I really do not understand our approach to Alzheimer's. Goggle's "ngram" site shows no mention of the disease until 1970. Then it sky-rocked. Also women have a higher rate of it than men do.
Perhaps Alzheimer's is a result of a deteration of the blood brain barrier which fails to protect the brain from toxics in the body.
It is accepted that surfactants will allow drugs to pass through the blood brain barrier and I would assume that we should limit our other exposures to these surfactants like polysorbate 80 but instead we add them to foods like ice cream and salid dressings, a laundry soaps and cleaning materials.
Is it possible that the fact that women are exposed to more cleaning products accounts for their higher Alzheimer's rate.
I think it is time for a new approch.
24
@allan in 1974 congress established the National Institute on Aging which funded research. See other events in this timeline.
https://www.alzheimers.net/history-of-alzheimers/
6
@Allan
In the 1960s, a young friend's mother who was barely 50, developed dementia, much later diagnosed as Alzheimer's. At that time (in the '60's), doctors did not put a name to it. The woman developed the symptoms after a really bad blow to the head during a fall. The mother's siblings developed Alzheimer's much later in life.
I don't recall while growing up, people in their 70s and early 80s - (many grandparents lived with their children)
- exhibiting signs of dementia.
Years ago, perhaps it didn't seem as common because they either didn't diagnose it or people died earlier before they developed the disease.
6
Perhaps this points to a spectrum disorder- some Alzheimer's dementia patients have specific genetic vulnerabilities while others resist.
Clearly, we have wasted decades looking at amyloid & tau--an end game of neuro-degeneration but not the etiology or functional bottom line.
The tendency for western medicine to look at the result of pathogenesis then try to blot it out has often been a dead end.
Reductionist thinking will never solve brain disease. Long term metabolic disruption starting a pathological process in the CNS is a promising etiology to explore- but may not show big profits for Big Pharma to research; a pill may not be the answer.
11
May God help those who will have Alzheimer's in the future and console those who lost a loved one to this killer. If this is a clue, I hope drug companies won't charge $1 million per patient to receive it.
40
Drug companies have raised the price of common insulin so high, that numerous people are going without their proper doses trying to stretch out their supply and losing limbs, needing permanent dialysis three times a week, or dying or as a result.
The costs of kidney dialysis on the safety net has become unsustainable and worsening.
It doesn’t take an expert to see how this is exponentially increasing the overall cost of health care dramatically, in addition to the suffering and increased death rates.
An explosion of diabetes cases in the USA, with in the millions has occurred within the past 20 years.
Congress and the President are not addressing this horrific injustice in any kind of effective manner. Pharmaceutical companies have the upper hand and make every excuse in the world to justify their outrageous price increases over the past 5 years.
Like the petroleum, tobacco , and other industries, they have lied, falsified information, using horrifically deceptive marketing strategies, and corrupt political means to continually increase their profits with no respect for human lives.
There is absolutely no justification for what they’ve done, period. Even many essential generic drugs have become unaffordable for the average person. Generics were supposed to be a solution.
The public must continue to push hard and demand reforms of opening up avenues for fairer drug prices, especially for essential and formerly inexpensive medications for now common, but deadly disease.
31
@Barbara Steinberg They will. Maybe more. Sad.
2
@Barbara Steinberg It's our job to make sure they don't overcharge.
1
What I said (out loud, so the neighbors could even hear me), before I even read the article was “wow!”, Just like Dr. Bu exclaimed
29
It appears that binding of sugar molecules to lipoproteins causes a lot of woes. Lipoproteins are cholesterol transport mechanisms, and it also appears that 'glycation' (attaching a sugar molecule) of lipoproteins is what makes sdLDL so dangerous to our coronary and other arteries.
Because our bodies are so resilient, it's probably too simple to say that dietary sugar is the source of both heart disease and dementia (as well as diabetes and high blood pressure), but it's almost certainly a contributing factor. And it's a factor that, despite our sugar addiction, we can control.
20
@Justin I'm not sure of the source or function of the HSPG molecule but DNA itself is composed partly of a sugar and the normal metabolism of all nerve cells starts with glucose. We may eat too much "sugar" but it's not clear that that has anything to do with Alzheimers, even if a complex molecule categorized as a sugar by chemists is involved.
22
We should try reducing the risk of Type 2 diabetes first by losing weight and cutting sugar out of your diet rather than leaning towards insulin therapy to do the job. I cut sugar and reduced alcohol consumption from my diet and lost 18 lbs in conjunction with exercise.
4
The scientific shift to examination of a patient's gross anatomy as a clue to illness was a quantum leap from the days when witch doctors read the spirit of afflicted people to diagnose and treat illness.
Similarly, blood tests and imaging technology gave physicians more clues with which to make disease diagnoses and treatment. However, it was clear, even half a century ago, that identical blood tests and imaging studies did not necessarily point to identical medical outcomes when looking at two similarly afflicted patients. Another, as yet invisible set of biological parameters, were obviously present. But what might those be?
Finally, as we come to the end of the second decade of the twenty first century, the tiny, incredibly powerful cellular genetic mechanism is being pried open revealing incredible complexities. The basic mechanisms of life itself are controlled by these genetic codes which control the manufacture of thousands of proteins which are the stuff of life itself. It is likely that this represents the penultimate chapter of human medicine.
21
The sentence I take issue with is that she couldn't have had the protective effect of educational stimulation because she only had a grade school education. Learning and education can take place outside of formal schooling, and is likely to do so particularly when formal schooling is unavailable since those with that drive and curiosity won't have that path to travel.
106
@Jennie The sentence says that it is "unlikely" her cognitive protection came from educational statement, not that it couldn't have - and it says she could barely read or write. While it's surely possible to get educational stimulent without basic reading or writing skills, I would imagine it's a lot more difficult.
66
@Brian
Education level is a proxy for being the type of person who enjoys learning something and using their brain. There is no reason that it has to happen via reading and writing. It can happen by interacting with people and observing your environment.
8
@Jennie My Mom has Alzheimer's and a lot of well-meaning (but very annoying) people suggest to me that she should do puzzles or sudoku or other brain stimulating exercises. This type of thinking is very common regarding dementias. I think that the article is referring to these attempts to stimulate the brain through educational games/activities and how they really don't make a difference in the big picture. I don't think it was meant to imply that her life wasn't stimulating or was less than.
Actually, as someone with Alzheimer's in my immediate family, I appreciate this important point because there can be an insinuation that if my mother just kept her brain active, she wouldn't be in this position. In reality, if you have the "wrong" genes, no amount of puzzles or word games will save you and I think the article is right to make this important point that Alzheimer's sufferers aren't mentally lazy.
This woman who has raised four children and graciously donated her time and mind to this research sounds amazing!
35
The imprecision of trying to understand disease using only visual cues, even if microscopically, is finally being overcome. The powerful ability of genetics to identify biologic mechanisms and craft molecular targeted therapies, can be directed at malignancies, auto-immune diseases and classic genetic illnesses; it can even be applied to entirely unique and new defects, occurring in a single person. There is ample room for several Nobel Prizes in this field. Now we need to figure out how to prevent the habits of smoking, indolence and overeating that are creating our era's most deadly, but self-caused epidemics.
20
Kudos to all involved in this discovery! Thanks especially to the unnamed woman from Colombia who consented to collaborating with the researchers and also Francisco Lopera who collected brains from the family in Colombia for many years, despite many hardships. That sort of focused determination also characterizes the decades-long work of E. Fuller Torrey, M.D., who has linked viral infections with mental illness for which we also desperately need breakthroughs in research.
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Did anyone look at potential lifestyle factors?
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As one solution, the idea that quieting APOE to prevent or fight Alzheimers might in turn cause those people to suffer from very high cholesterol, is darkly amusing. Some kind of biological Whac-A-Mole.
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@dugggggg , exactly. Click the link for the Reimann study mentioned in this article. The man he saw with no APOE gene had painful pustules all over his body from ridiculously high cholesterol that couldn’t be treated by either medicine or diet, or even the two in combination. Be careful what you wish for. You could avoid dementia only to be plagued by an extremely painful, untreatable skin disorder.
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@dugggggg The early Alzheimer's gene that was rampant in this woman’s family is NOT a variant of APOE, APOE 4. This woman’s two copies of APOE were both APOE3, which is associated with no greater than average risk for the general population. The gene thought to be silenced by the double Christchurch mutation she had is a completely different gene than the APOE gene. Her AD gene is Presenilin on chromosome 14. It is unclear from this article whether the later-onset APOE4 can also exist with the Christchurch mutations that seem to be implicated in silencing early-onset dementia. In any event, however, there is still a reasonable chance that synthesis of the agent that prevents the binding with the problematic sugar could stave off Alzheimer’s in those with APOE4 and also those with the disease from non genetic etiologies.
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@dugggggg yeah, but high cholesterol is treatable.
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The mega wealthy will fund, through their being able to pay, for the development of these treatments. They will profit by being able to afford the best, but eventually medicine and medical treatment will disperse to the masses. It took Nancy Reagan seeing Ronnie die of Alzheimer's to back stem cell research. She was against it until Ronnie got Alzheimer's. So, it is what it is. Experiment with the rich and famous and then run it through a social medicine system.
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Progress . . .its very heartening to know work like this is being done all over the world. Alzheimer’s is everybody’s worst fear.
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@ Pam Belluck. Very exciting news, but your writing has two issues.
1. “This ultra rare mutation appears to help stave off the disease by minimizing the binding of a particular sugar compound to an important gene.” Incorrect, the mutation works by preventing binding of a sugar to the protein product of the gene, not the gene.
2. The article has a contradiction. First you state that the woman does better cognitively than people in their 40s and 50s. Then you state that she is showing early signs of dementia? Certainly most healthy people in their 40s and probably 50s are not showing early signs of dementia.
A very important and exciting article, but you could have been more careful in the writing.
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@Barry No contradiction. Article clearly states woman is in her 70’s. You could have been more careful in the reading.
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@Barry I took the 40s-50s comment to be referring to *members of her family* in their 40s-50s, not that age group in general.
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The patient in the study is in her 70s now.
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Dementia is one of the most dreadful diseases ever to afflict humankind. My once sweet mother has it, and she’s turned into a monster. I’m trying to take full-time care of her right now, and it’s sucking the life out of me. Please find a genuine cure because I would not wish this godawful degenerative brain disorder on my worst enemy.
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@Zareen I understand. My mother traveled the same path until she died. The hardest thing for me now, 7 years after her death, is to remember my mom as she was before Alzheimer's, because those final, terrible years obliterated those early memories. So now, I'm left with my most vivid memories of her are as she was at the end of her life, not as she was before.
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@Zareen Hang in there Zareen. You are doing a wonderful service for your Mom. My Dad suffered from MS, may not be as dreadful as Dementia, but very hard to see him deteriorate, especially as child. He always has a sense of humour even thou his body and mind were failing him. My Mom cared for him until his death.
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@Zareen Your once sweet mother would have been very distressed to think she is a monster to you now. I hope you can get a break at least once in a while. If you find a way to do it, please do not feel guilty.
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As usual biology continues to amaze. And hats off to the tenacity of these researchers. It is good to know within my lifetime we may have found a way to tame Alzheimer's.
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These breakthroughs in genetics and drugs are inspiring. Until you realize that here in the U.S., where drug companies charge 1000x the cost of an epi pen, that only the wealthy will benefit from all this technology, or those involved in scientific studies.
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One point for you to consider, Tom. About 85% of all prescriptions today are for generic medicines. There is almost no profit margin in that business -- prices in the US are generally lower than most other countries because of our free market system of competition. But ALL of those medicines were developed by the biopharmaceutical industry. Yes, the industry was able to profit from those medicines when they were patent protected -- but then the medicines are basically free for eternity. Its actually a very reasonable system.
And, by the way, now that the FDA has approved additional epi-pen products the price is -- as Econ 101 would have predicted -- coming down. God bless capitalism!
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@Tom J Rubbish that only the wealthy benefit. Everyone benefits from medical breakthroughs. Ever hear of insulin, penicillin, HIV treatment, etc.?
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@Drug developer Hi! There was an opinion piece yesterday in the Times regarding big pharma. The majority of drugs are developed because of the NIH. Big pharma is now seeking other uses for already existing drugs instead of developing new drugs. The drug pricing in this country is horrific due to the "Capitalist free market system" you so cheer about.
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All the more reason why it’s critical that the NIH receive more funding not just to fund its disease centers but to fund research at these independent research institutes that are key to the discovery pipeline.
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@E Keene NIH (National Institutes of Health) is one of America's great medical success stories that deserves an ever-wider audience. Our daughter, then 37, was accepted as a research patient, Surgeries and a transplant followed, but she died at 45. A gastrinoma of her pancreas plus other complications. NIH did their best. Our family can never fully express our gratitude.
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@E Keene
Absolutely right! Really exciting finding. Let’s hear it for science!
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@E Keene, It's not just more funding, it's how that money will be spent. The article is clear that the work by Dr. Lopera is the result of decades of work. NIH demands that any grant show results in 4 years. Who will devote a career to arguing with NIH every 4 years about prospects for the next 4 years, knowing that most studies like this don't lead to exciting results while out-of-funding and out-of-salary at 50 are real outcomes? We have to have better career paths and more long-term assured funding to get more results like Dr. Lopera's.
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