Yet another exception to an incurable disease. This happens all the time.
Please don't put a downer on this as it gives hope to those whose is suffering or have close one who is suffering.
A woman with a rare genetic mutation that has protected her from dementia
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Re: A woman with a rare genetic mutation that has protected her from dementia
#12I wonder if one of the major pharma companies will develop an anti-dementia drug from this finding, and then if she (or her family) will see any of the billions in revenues they'll make.
Re: A woman with a rare genetic mutation that has protected her from dementia
#13How do they know? Have they been shooting her with a dementia gun?
Please read the article.
> Researchers have found a woman with a rare genetic mutation that has protected her from dementia even though her brain has developed major neurological features of the disease.
> She, like thousands of her relatives, going back generations, was born with a gene mutation that causes people to begin having memory and thinking problems in their 40s and deteriorate rapidly toward death around age 60.
Re: A woman with a rare genetic mutation that has protected her from dementia
#14Yet another exception to an incurable disease. This happens all the time.
It’s very interesting from a scientific standpoint. Finding conditions like this can give valuable insight to causality of the different symptoms. You just can’t test all possible mutations to asses their effect.
Re: A woman with a rare genetic mutation that has protected her from dementia
#15Quick summary of the findings:
- Patient had a PSEN1 E280A mutation, which predisposes you to a 99.9% risk of developing early-onset Alzheimer's.
- Patient was expected to have Alzheimer's by 50. She is currently 70, with very little signs of cognitive decline. Although she has large amounts of amyloid proteins (hallmark of Alzheimer's) it has not reduced her cognitive capacity.
- Patient had two copies of the APOE3ch gene variant. The study indicates this mutation was primarily responsible for protecting the patient from Alzheimer's.
- Imaging tests showed she did have large amounts of amyloid protein deposits, but the amount of tau tangles, was relatively low.
- Experiments have shown this APOE3ch gene variant reduces ability of APOE to bind to certain sugars called heparin sulphate proteoglycans (HSPG). APOE HSPG binding has been implicated as one mechanism that may contribute to amyloid + tau protein deposits.
Re: A woman with a rare genetic mutation that has protected her from dementia
#16Quick summary of the findings: - Patient had a PSEN1 E280A mutation, which predisposes you to a 99.9% risk of developing early-onset Alzheimer's. - Patient was expected to have Alzheimer's by 50. She is currently 70, with very little signs of cognitive decline. Although she has large amounts of amyloid proteins (hallmark of Alzheimer's) it has not reduced her cognitive capacity. - Patient had two copies of the APOE3c…
So this isn’t apoe2? It’s some novel mutation of apoe3?
Re: A woman with a rare genetic mutation that has protected her from dementia
#17Quick summary of the findings: - Patient had a PSEN1 E280A mutation, which predisposes you to a 99.9% risk of developing early-onset Alzheimer's. - Patient was expected to have Alzheimer's by 50. She is currently 70, with very little signs of cognitive decline. Although she has large amounts of amyloid proteins (hallmark of Alzheimer's) it has not reduced her cognitive capacity. - Patient had two copies of the APOE3c…
So this isn’t apoe2? It’s some novel mutation of apoe3?
Correct. The APOE3ch alteration falls within a region of the APOE3 protein. Specifically, the article talks about APOE3 R136S or 'Christchurch' (APOE3ch) mutation.
A more indepth analysis of the patient's mutation and mechanism(s) of action:
https://www.genomeweb.com/sequencing/early-onset-alzheimers-...
Re: A woman with a rare genetic mutation that has protected her from dementia
#18I wonder if one of the major pharma companies will develop an anti-dementia drug from this finding, and then if she (or her family) will see any of the billions in revenues they'll make.
Thats absurd. She neither created nor detected the mutation. I agree that dna patents should not exist though. We share so much of it.
Re: A woman with a rare genetic mutation that has protected her from dementia
#19I wonder if one of the major pharma companies will develop an anti-dementia drug from this finding, and then if she (or her family) will see any of the billions in revenues they'll make.
They won't earn anything.
This might lead to discovering a receptor or metabolic pathway mechanism for attack, but the mutation isn't a part of any solution that will be distributed to patients.
This mutation is merely a suggestion for a gradient in solution space to explore.
In case you're thinking that this variant of the gene can be introduced into Alzheimers patients, that is impossible. You can't safely deactivate metabolic pathways at runtime in a single cell, much less a whole organism. And especially not in a critical organ such as the brain. And how would you introduce the new gene and ensure that the correct dosing is delivered? This type of thinking stems from a lack of familiarity with biochemistry, the molecular biology of genetics, and cell physiology.
Re: A woman with a rare genetic mutation that has protected her from dementia
#20Nytimes did a piece in 2017 about a similar situation [1] about studying the Tsimané [2] and the Tsimané Project [3]; it's a different slant on Alzheimer's but, with such a complex issue, we need to federate and examine all such views. [1] https://www.nytimes.com/2017/07/14/opinion/sunday/alzheimers... [2] https://en.wikipedia.org/wiki/Tsiman%C3%A9 [3] http://tsimane.anth.ucsb.edu/index.html
Thanks for that. The interplay between human parasite evolution is fascinating.
Here's a good paper I read some years back about helminth infections and the beneficial effect on autoimmune disorders (among other things) [1].