Mutation Protected Man From Alzheimer's Disease, Hinting at Treatment (nytimes.com) 26
Researchers have discovered that a man with a gene mutation that causes early-onset Alzheimer's disease was protected from developing the disease until the age of 67 due to another mutation in a different gene that blocked the disease from affecting his entorhinal cortex, a brain region associated with memory and cognition. This finding could pave the way for new treatments that delay the onset of Alzheimer's and transform the approach to therapeutics for the disease. The New York Times reports: "This really holds the secret to the next generation of therapeutics," said Dr. Joseph F. Arboleda-Velasquez, a cell biologist at Massachusetts Eye and Ear in Boston and a member of the research team. Dr. Arboleda-Velasquez is a co-founder of a biotechnology company looking to produce drugs that could act on this research. A drug that delays the disease by two decades is not out of the question, said Dr. Diego Sepulveda-Falla, a neuropathologist at the University of Hamburg in Germany and a member of the research team. The mutation results in a potent version of a protein, Reelin, in the entorhinal cortex. That super-potent Reelin ultimately prevents tangled strands of tau proteins from sticking together and forming the structures that are a characteristic of Alzheimer's. The idea is to "go in with a syringe and treat only one area" of the brain, he said.
The man with what the researchers are calling "resilience" to Alzheimer's was part of a decades-long study of 6,000 people living in Colombia who have a gene mutation that causes Alzheimer's in middle age. Many have agreed to genetic testing, brain scans and, after they die, brain autopsies. A few years ago, the same research group in the current study identified a woman who also was protected from Alzheimer's. But in her case, resilience was caused by a mutation in a different gene, APOE. Instead of lacking clumps of tau in one small region of her brain, they were missing in her entire brain. But, the researchers say, they think the two patients are revealing a new pathway to treat Alzheimer's. The two genes that are mutated interrupt a molecular cascade of events needed for tau to aggregate in the brain. The findings were published in the journal Nature Medicine.
The man with what the researchers are calling "resilience" to Alzheimer's was part of a decades-long study of 6,000 people living in Colombia who have a gene mutation that causes Alzheimer's in middle age. Many have agreed to genetic testing, brain scans and, after they die, brain autopsies. A few years ago, the same research group in the current study identified a woman who also was protected from Alzheimer's. But in her case, resilience was caused by a mutation in a different gene, APOE. Instead of lacking clumps of tau in one small region of her brain, they were missing in her entire brain. But, the researchers say, they think the two patients are revealing a new pathway to treat Alzheimer's. The two genes that are mutated interrupt a molecular cascade of events needed for tau to aggregate in the brain. The findings were published in the journal Nature Medicine.
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Enter this world a moron and you don't have much brains to lose in the first place. Better: you're too stupid to realize you're stupid and you're about to get stupider.
“P.S. please if you get a chanse put some flowrs on Algernons grave in the bak yard.”
Another day, another Alzheimer's breakthrough. (Score:5, Interesting)
Unless findings about cancer and Alzheimer's can be replicated independently 10 times, journalists should stop reporting on it.
At this point, it's just cruel to try to keep people's hopes up when there hasn't been enough replication to rule out bad experimental design, to outright fraud.
Re:Another day, another Alzheimer's breakthrough. (Score:4, Interesting)
If only the world were so simple. Are you going to fund the 9 other independent studies?
Re:Another day, another Alzheimer's breakthrough. (Score:5, Insightful)
But I do put my money where my mouth is and support scientists like Elizabeth Bik, who relies on donations, to be able to spend time spotting suspicious looking data replications in papers.
If only the world were so simple.
The world isn't simple. This is why replication is needed. It's the bedrock of science.
What, you think science would be cheaper if other scientists could not replicate a study, leading money and time chasing down the wrong path?
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I agree with you. Replication is key for validating the claims made by one person/team. However, too much of it draws resources that could be used to fund new research. How much is too much? I don't think there is a precise answer to that, but I guess that when the research is very expensive and/or depends on some rather unique circumstances, I would be inclined to avoid extensive replication in favor of more scrutiny over the data collection and analysis.
As in almost everything, the dose makes the poison.
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Comment removed (Score:5, Interesting)
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First, this isn't about a cure for Alzheimer's
Good thing I never used the word, or used the concept, in my comment.
I really don't see the point in nine other peer reviewed studies. 1 additional study to confirm the original should be enough.
How many peer reviewed replications confirming the famous, now-possibly-fraudulent, Alzheimer paper were performed?
Look at the state of publications. There is a lot of back-scratching citation padding papers in many fields. You need 9 other independent replications as a safeguard against researchers citing each other for favours.
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Non-fraudulent replication studies don't tend to come up with quite the same answer. There's a lot of noise in the system, and people never specify the conditions completely. Sometimes it even matters which manufacturer some ingredient comes from. Or just how finely it's divides. Or what speed you stirred for how long. Or.... Well, the variables are both too numerous to contemplate and often unsuspected.
FWIW, when trying to make COVID vaccine, one manufacturer found their plant was too small, so they
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> Second, journalists will always misreport or exaggerate or simply not emphasize the nuances enough with science.
Bullshit. The media 100% accurately reported on corona, masking, social distancing, transmission, PCR testing, death rates WITH vs FROM corona, vaccine side effects, vaccine efficacy and the role exercise and eating right had on survival rates.
To say otherwise is complete heresy and I hope you get banned from all social media. Good day sir!
Another Alzheimer's breakthrough? (Score:2)
Re: Another day, another Alzheimer's breakthrough. (Score:4, Insightful)
I think this hits on an issue in scientific reporting in general. We all want science to just be breakthrough after breakthrough, but the reality is that it's two steps forward, one step back. Sometimes it's even one step forward and two steps back. That's an inevitable aspect of scientific progress, but we only report the steps forward in the media (barring instances of fraud). So it's breakthrough after breakthrough in the public eye, but far more complicated behind the scenes. The problem is that the public wants to know when there's a major breakthrough (rightfully so), but when do you declare that? After 10 replications? After two? After 5-sigma confidence? 3-sigma?
I'd love some scientific magazine (like Science or Nature) to take a look at, e.g. 10 times they've declared something a breakthrough between 20 and 10 years ago, and see where those breakthroughs are now.
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This isn't to say scientists shouldn't publish their results. Experiments that fail actually need to be recorded in the literature more than they are, to help people stop going down failed
Science news (Score:4, Insightful)
Better idea - when reading *any* science news just assume that either the research or reporting is badly mistaken. You'll be right better than 95% of the time.
Roughly 80% of all research results are later disproven, and I think that's pushing 90% in medicine (biology is *crazy* complicated to begin with, and the outsized profit motive in medicine amplifies the tendency towards... lets call it "optimism" among researchers.)
Scientific publishing, "direct from the horses mouth" is the gold standard of accurate scientific reporting... and it exists primarily to attract the attention of other scientists who can show where the original scientists were badly misled by their mistakes.
Scientific *reporting* meanwhile exists primarily to entertain laypeople who think it's about something real, so you can charge for showing them ads. And between the complexity of the subjects, incompetence of the reporters, and near-total lack of incentive for accuracy, even "reputable" sources tend to badly misrepresent the science on a regular basis.
Hoping (Score:2)
I hope this guy got paid for his time and fluid contributions. Not to mention all the pokes and prods.
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My mind immediately jumped to the question (Score:2)
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Can CRISPR be used to add this mutation to my genes?
Yes, but you then have to get a tattoo saying "GMO". :-)
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