He Was Expected To Get Alzheimer's 25 Years Ago. Why Hasn't He? (nytimes.com) 44
Doug Whitney carries a genetic mutation that guaranteed he would develop Alzheimer's disease in his late forties or early fifties. His mother and nine of her thirteen siblings died from the disease. His oldest brother died at 45. The mutation has decimated his family for generations. Whitney is now 76 and remains cognitively healthy. The New York Times has a fascinating long read on Whitney and things happening around him.
Scientists at Washington University School of Medicine in St. Louis have studied Whitney for 14 years. They extract his cerebrospinal fluid and conduct brain scans during his periodic visits from Washington State. His brain contains heavy amyloid deposits but almost no tau tangles in regions associated with dementia. Tau accumulation correlates directly with cognitive decline. Whitney accumulated tau only in his left occipital lobe, an area that does not play a major role in Alzheimer's.
Researchers identified several possibly protective factors in Whitney's biology. His immune system produces a lower inflammatory response than other mutation carriers. He has unusually high levels of heat shock proteins, which prevent proteins from misfolding. Scientists believe his decade working in Navy engine rooms at temperatures reaching 110 degrees may have driven this accumulation. He also carries three gene variants his afflicted relatives lack. His son Brian inherited the mutation and remains asymptomatic at 43. Brian received anti-amyloid drugs in clinical trials. Researchers published their findings on Whitney in Nature Medicine. They described the study as a call for other scientists to help solve the case.
Scientists at Washington University School of Medicine in St. Louis have studied Whitney for 14 years. They extract his cerebrospinal fluid and conduct brain scans during his periodic visits from Washington State. His brain contains heavy amyloid deposits but almost no tau tangles in regions associated with dementia. Tau accumulation correlates directly with cognitive decline. Whitney accumulated tau only in his left occipital lobe, an area that does not play a major role in Alzheimer's.
Researchers identified several possibly protective factors in Whitney's biology. His immune system produces a lower inflammatory response than other mutation carriers. He has unusually high levels of heat shock proteins, which prevent proteins from misfolding. Scientists believe his decade working in Navy engine rooms at temperatures reaching 110 degrees may have driven this accumulation. He also carries three gene variants his afflicted relatives lack. His son Brian inherited the mutation and remains asymptomatic at 43. Brian received anti-amyloid drugs in clinical trials. Researchers published their findings on Whitney in Nature Medicine. They described the study as a call for other scientists to help solve the case.
Children (Score:2)
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Going for a shower to wash off your slime :P
Genetic counseling for your best possible kids? (Score:2)
On the one hand, the negative moderation and your comment make me wonder if that was a situation where anonymity was justified.
On the other hand, I'm wondering if his use of anonymity encouraged his post to go overboard?
Me? I was looking for references to genetic counseling, but you might be in favor of dead children. The way Ma Nature sees things involves equilibrium, and the equilibrium calls for more dead babies in the sense of having kids who don't reproduce. The math is actually quite simple. The genes
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The urge to reproduce is arguably the core motivating force of living things. To suggest it's narcissism if the person has been dealt a less than ideal hand seems a little misguided. They're gonna try to reproduce pretty much no-matter-what but also, unless the problem if immediately terminal, there's always hope. Gene expression varies based on environment - they are a palette of available colours to be chosen from as needed - not every picture produced from that palette is the same.
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I'm having trouble interpreting your reply, but it sounds like you are advocating for active forms of genetic intervention whereas I have fairly strong reservations against such intrusions. Rather I think the right to reproduce should be guaranteed, but we can legitimately look at how the dice landed before an actual human being is involved... Ma Nature's evolutionary approach is basically blind and the bad shuffles merely become food and fertilizer faster.
But I may be an evolutionary extremist. For example
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Awww! Now poor baby has to give up his hostages!
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Obviously ... (Score:5, Funny)
He Was Expected To Get Alzheimer's 25 Years Ago. Why Hasn't He?
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It's like the secret to flight: Simply miss the ground when you fall.
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It's like the secret to flight: Simply miss the ground when you fall.
Ya, I think I read that somewhere [hhgproject.org]. :-)
Bake the fohgies! (Score:2)
Let's try soaking geezers on saunas.
Oh wait, I'm a geezer too.
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Correction: in saunas.
Geezer moment.
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If so, then this is a neat living example of the "sauna use protects against dementia" hypothesis.
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Wonder if Finns have a lower incidence of Alzheimers, since saunas are such a part of their culture.
Woah! They're the highest in the world! Guess I'll cancel that sauna install . . .
https://www.worldlifeexpectanc... [worldlifeexpectancy.com]
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Finland is also cold. What about places with high average temperatures? What are rates like in Phoenix? Saudi Arabia?
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There's a map at that link, and it shows that Brazil, India and Egypt are low, but then so are Russia, Kazakhstan and Chile. Libya, Saudi Arabia and Australia are all high, so climate doesn't appear to make much difference. The US is #8 in the rankings but right next door Mexico is #175, an interesting juxtaposition.
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I wonder how to reconcile that with the observational studies showing a link between frequent sauna use and reduced incidences of Alzheimers? Heat-shock proteins and all that... hmm...
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This sounds true but actually isn't. I've heard figures of 20-30% of outcomes attributable to genetics, the rest due to other factors. To be fair you did say it's a variation but it's the genes which are the noise on the signal / tail on the dog.
The heritability of human longevity: a population-based study of 2872 Danish twin pairs born 1870-1900 [nih.gov] (identical twins == identical genes yet somehow different outcomes).
Once you accept that expression o
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Which is actually really cool from an evolutionary perspective. It allows for deeper solution of 'fitness maximisation' because runtime (environment, activities, cooperation with others) have an effect.
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I drink like a fish, smoked, ride motorcycles, don't exercise, and eat garbage.
My brother did none of those things. He died of cancer, and I'm still here for some reason. God hates me and will probably make me live to 100.
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30% might well be the "biggest single factor." That study compared genes versus everything else combined.
The genetic contribution could be higher today too. That cohort was people born between 1870 and 1900, when there were a lot more environmental things that might kill you early, including two world wars.
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Maybe being super-chilled the whole time had knock-on effects - no having himself reamed-out by cortisol for example.
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Since I can't trust "research" from "scientists" I'll trust my own lying eyes.
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IOW (Score:2)
Air-conditioning makes you demented.
Are Alzheimer's rates lower in Arizona? (Score:2)
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