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A woman with a rare genetic mutation that has protected her from dementia

nytimes.com

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Re: A woman with a rare genetic mutation that has protected her from dementia

#21

Post by harry8 »

yitchelle wrote: post #11
rpmisms wrote: post #4

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.

Really? Please don't prick the clickbait bubble? That is the /exact/ emotion that makes us be exploited by this clickbait. And it /is/ clickbait. Bringing it back to reality is what most of us need and actually want. Being taken advantage of becuase you would literally clutch the tip of a sword as somoene drowning is just really horrible. You clutch the sword and they let it go as you've served your purpose and they couldn't stop you drowning anyway. It's vile.

Re: A woman with a rare genetic mutation that has protected her from dementia

#22

Post by gzer0 »

echelon wrote: post #19
huac wrote: post #12

I 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 deactiva…

You must not be familiar with the drug Onasemnogene abeparvovec. This is administered for spinal muscular atrophy patients. Patiens with SMA have a mutation in their SMN1 gene which causes decreased SMN protein.

Onasemnogene abeparvovec is a biologic drug consisting of AAV9 virus capsids that contains a SMN1 transgene along with synthetic promoters. Upon administration, the AAV9 viral vector delivers the SMN1 transgene to the affected motor neuron, where it leads to an increase in SMN protein.

The point is, while research innovation regarding gene therapy, CRISPR CAS9, etc takes time and money, it IS indeed possible. Your post suggests a type of thinking that stems from an abundance of ignorance.

Re: A woman with a rare genetic mutation that has protected her from dementia

#23

Post by JDHigh »

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Re: A woman with a rare genetic mutation that has protected her from dementia

#24

Post by wyxuan »

JDHigh wrote: post #23

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Re: A woman with a rare genetic mutation that has protected her from dementia

#25

Post by CobrastanJorji »

JDHigh wrote: post #23

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Re: A woman with a rare genetic mutation that has protected her from dementia

#26

Post by mattkrause »

gzer0 wrote: post #22
echelon wrote: post #19

Earlier quoted context omitted.

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 deactiva…

You must not be familiar with the drug Onasemnogene abeparvovec. This is administered for spinal muscular atrophy patients. Patiens with SMA have a mutation in their SMN1 gene which causes decreased SMN protein. Onasemnogene abeparvovec is a biologic drug consisting of AAV9 virus capsids that contains a SMN1 transgene along with synthetic promoters. Upon administration, the AAV9 viral vector delivers the SMN1 transge…

> stems from an abundance of ignorance.

Ouch. In their defense of their 'ignorance' of gene therapy, Zolgensma was just approved this spring, it's literally one of two in vivo gene therapies, and it's only approved for kids On the other hand, they're almost certainly correct that there's no straight path from this one patient to a therapy. For SMA, we've known about the affected genes for nearly 30 years (https://www.ncbi.nlm.nih.gov/pubmed/2320125). The pathways are not totally trivial--there's some weirdness involving alternative splicing--but it's not impossible to wrap your head around what goes wrong. For AZ, we have no idea. Untold amounts of blood and treasure have been sunk into the idea that plaques were the problem, and despite some promising initial data, that hasn't panned out[0]. This is exciting because it suggests a new set of pathways to explore. The rest is hype and speculation: I'd be gobsmacked if there were a viable therapy in the next ten years.

[0] Or maybe not. Biogen seems to be taking yet another whack at it.

Re: A woman with a rare genetic mutation that has protected her from dementia

#27

Post by thelittleone »

This make me curious about mutations and human evolution.

By 50 years of age she has past her (natural) maternal age. So it's not like women with that mutation would bear more children.

How would such a mutation help her lineage? But that same question, more broadly, how do mutations that benefit people past their child bearing age factor into human evolution?

I suppose mentally healthy grandparents are able to spend more time with grandchildren freeing up the parents to be more productive. They can also pass down wisdom, techniques that could benefit grandchild.

Re: A woman with a rare genetic mutation that has protected her from dementia

#28

Post by djsumdog »

thelittleone wrote: post #27

This make me curious about mutations and human evolution. By 50 years of age she has past her (natural) maternal age. So it's not like women with that mutation would bear more children. How would such a mutation help her lineage? But that same question, more broadly, how do mutations that benefit people past their child bearing age factor into human evolution? I suppose mentally healthy grandparents are able to spend…

It would be interesting to see if, in a few thousands years, these traits do somehow manage to get passed down. There is a good chance that traits that help with things like Alzheimer's wouldn't be as likely to get passed down because of reasons you've mentioned. Or we might be able to treat it with other therapies as science outpaces evolution as far as longevity goes.

Humans are in a very unique place with our sentient minds and understanding of the world. It'd be nice if we could compare ourselves to other species, but we haven't found any yet, and they're likely to be billions of light years away, or extinct, or both.

Re: A woman with a rare genetic mutation that has protected her from dementia

#29

Post by germinalphrase »

thelittleone wrote: post #27

This make me curious about mutations and human evolution. By 50 years of age she has past her (natural) maternal age. So it's not like women with that mutation would bear more children. How would such a mutation help her lineage? But that same question, more broadly, how do mutations that benefit people past their child bearing age factor into human evolution? I suppose mentally healthy grandparents are able to spend…

Your last paragraph is likely the crux of it. When people die “young” in low information societies, received wisdom has tremendous survival value.

Re: A woman with a rare genetic mutation that has protected her from dementia

#30

Post by chrisamiller »

thelittleone wrote: post #27

This make me curious about mutations and human evolution. By 50 years of age she has past her (natural) maternal age. So it's not like women with that mutation would bear more children. How would such a mutation help her lineage? But that same question, more broadly, how do mutations that benefit people past their child bearing age factor into human evolution? I suppose mentally healthy grandparents are able to spend…

> How would such a mutation help her lineage? But that same question, more broadly, how do mutations that benefit people past their child bearing age factor into human evolution?

To oversimplify a bit, you can think of most mutations as neutral, in terms of reproductive fitness. People (and populations) accumulate them all the time, just by chance. Occasionally, one that was previous neutral becomes beneficial when the environment changes - say, when it confers immunity to a virus, or helps with synthesizing an amino acid that's in short supply. This is why having a big population with lots of variation is beneficial and why bottlenecks hurt the viability of a species.

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