[HN Gopher] Gene-silencing tool shows promise as a future therap...
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       Gene-silencing tool shows promise as a future therapy against prion
       diseases
        
       Author : gmays
       Score  : 213 points
       Date   : 2024-07-11 19:21 UTC (1 days ago)
        
 (HTM) web link (news.mit.edu)
 (TXT) w3m dump (news.mit.edu)
        
       | el_benhameen wrote:
       | The Wired deep dive on the couple whose lab this came from is
       | worth a read: https://www.wired.com/story/sleep-no-more-crusade-
       | genetic-ki...
        
         | gumby wrote:
         | Thank you for that. I'm normally uninterested in the "people
         | behind the story" articles but this one was very good and I'm
         | glad to have read it.
        
         | dyauspitr wrote:
         | There's a decent TED talk as well by the woman involved
         | (Vallabh)
        
       | gushogg-blake wrote:
       | Does this affect infectious prion diseases as well, or just the
       | genetic ones? Article makes it sound like everyone has the prion
       | protein gene, so not sure what the different etiologies are. My
       | understanding was that prions were just self-replicating proteins
       | with no biological mechanisms involved, but apparently it's more
       | complex than that.
        
         | Terr_ wrote:
         | It sounds as if this is mostly a case where the initial
         | infection is a matter of time, and the goal is to stop it from
         | occurring:
         | 
         | > CHARMs, however, work further upstream, turning off the gene
         | that codes for the faulty protein so that the protein never
         | gets made in the first place. [...] In a person who hasn't yet
         | developed symptoms, removing the protein should prevent disease
         | altogether.
         | 
         | That said, it may still be relevant as a helpful therapy for
         | someone already infected, if the accidental production of
         | "fresh" prions--happening in parallel in all cells--is a much
         | bigger problem than an existing prion floating around and
         | catalyzing neighbors:
         | 
         | > Testing in mice showed that ZFP-guided CHARMs could eliminate
         | more than 80 percent of the prion protein in the brain, while
         | previous research has shown that as little as 21 percent
         | elimination can improve symptoms.
        
         | thatoneguy wrote:
         | Both the communicable and noncommunicable prion diseases still
         | require a particular protein (and typically protein isoform
         | since some folks are resistant to vCJD) to be present so I
         | think this would work on both forms. That said, someone doesn't
         | normally now they have a prion disease until it's probably too
         | late to do anything about it.
        
         | throwawaymaths wrote:
         | Possibly.
         | 
         | A corrections: a prion (the disease agent) is believed to be a
         | self replicating protein fold, so it needs a source protein
         | ("prion protein", aka PrP, one word) to feed the folding.
         | 
         | Now, although the evidence is pretty solid that the fold is the
         | infectious agent, there's a lot of unanswered questions: we can
         | try to make prions in the lab but iiuc no one has made a fiber
         | of PrP in the lab _without_ seeding from an infectious sample
         | that itself was infectious.
         | 
         | Moreover, a lot of related Alzheimer's research has come under
         | intense scrutiny recently[0], so much so that the viral
         | hypothesis of Alzheimer's is now dominant and no longer the
         | "prion-like hypothesis", so, it's possible that the self-
         | propagating protein fold is not the infectious agent for prion
         | disease either.
         | 
         | If it is, then it's likely that turnjng down PrP in the brain
         | will slow or even reverse the disease. The PrP fibers
         | _probably_ can be degraded, if very slowly, and turning off the
         | spigot of source material for the fold will push the
         | equilibrium in the other direction
         | 
         | [0] see marc tessier levigne (current CEO of AI/biotech form
         | Xaira)'s firing?resigning? from stanford due to fraudulent data
         | in his lab
        
       | oigursh wrote:
       | It's believed the UK will suffer from a batch of hidden vCJD
       | prion disease in the next decade or so. Well needed therapy.
        
         | wlll wrote:
         | Cite please.
        
         | masfuerte wrote:
         | This is very detailed:
         | 
         | https://www.cjd.ed.ac.uk/sites/default/files/report31.pdf
         | 
         | The vCJD death rate is increasing but still very low. Most of
         | the increase is in the over seventies, which supports the
         | theory that this is due to improved testing rather than
         | increased illness.
         | 
         | I'd be more concerned about the states in the USA where it is
         | still illegal to test for BSE.
        
           | mikeodds wrote:
           | What's the reasoning for making it illegal to test for BSE?
        
             | masfuerte wrote:
             | A positive test would damage the cattle industry.
        
             | tptacek wrote:
             | From the USDA site:
             | 
             |  _Q. Why can 't we test all beef for BSE safety?_
             | 
             | A. BSE tests are not conducted on cuts of meat, but involve
             | taking samples from the brain of a dead animal to see if
             | the infectious agent is present. We know that the earliest
             | point at which current tests can accurately detect BSE is
             | 2-to-3 months before the animal begins to show symptoms.
             | The time between initial infection and the appearance of
             | symptoms is about 5 years. Since most cattle that go to
             | slaughter in the United States are both young and
             | clinically normal, testing all slaughter cattle for BSE
             | might offer misleading assurances of safety to the public.
        
           | logicprog wrote:
           | Which states are those?
        
       | nikolay wrote:
       | A family became scientists to find a cure and their solution is
       | pretty simple: https://www.youtube.com/watch?v=04PmEJaYKd0
        
         | dekhn wrote:
         | There are no simple solutions to complex biology problems that
         | work in a medical context.
        
           | piker wrote:
           | ...penicillin?
        
             | dekhn wrote:
             | using a byproduct of mold to cure a bacterial infection
             | isn't simple.
             | 
             | Merely noticing it was a rare occurrence (Fleming got lucky
             | with his dirty lab), it only works on gram positive
             | bacteria, and importantly, use of penicillin leads to
             | evolution of antibiotic resistance, reducing the utility of
             | penicillin. That last point especially is a highly non-
             | simple process.
             | 
             | Like just about anything in medical biology, there is a
             | simple narrative taught to the general public, and then
             | there's the reality as it stands in modern medical research
             | and practice.
             | 
             | For prions, I'm sure people can find any number of ways to
             | module prion activity in vitro, most of which won't work in
             | vivo/in the real world, for messy complex reasons. To use
             | machine learning parlance, a feature like the existence of
             | a TED talk by the creators of a medical treatment being
             | True highly correlates with the ineffectiveness of the
             | treatment (same as "If published in Nature, it's almost
             | certainly wrong!")
        
             | nikolay wrote:
             | Aspirin?
        
               | dekhn wrote:
               | Aspirin causes stomach bleeding due to its anti-clotting
               | effect due to nonselective binding and inhibition to
               | COX-1 and COX-2; see the list of
               | https://en.wikipedia.org/wiki/Aspirin#Adverse_effects to
               | see all the complications that arise from this relatively
               | innocuous drug. 43 deaths in the US in a single year
               | (mostly people taking the drug as a poison). See details
               | in https://en.wikipedia.org/wiki/Salicylate_poisoning
               | showing the all the kinds of human biology aspirin
               | interacts with that don't directly contribute to pain
               | suppression. The main reason for fewer people dying from
               | aspirin was a shift to other drugs.
        
               | dyauspitr wrote:
               | Millions of people use aspirin everyday to relieve aches
               | and pains. 43 deaths is nothing compared to the benefits,
               | especially since those people are intentionally
               | overdosing with the intention of killing themselves.
        
               | thinkfaster wrote:
               | Some of us are explicitly forbidden to take aspirin by
               | their Dr. so the population of asprin takers is biased
               | towards a cohort for whom asprin is safe.
        
               | vaylian wrote:
               | I don't think that this is GP's point. The point is
               | rather that biology is complex and solutions to
               | biological problems are always complex even if they are
               | accompanied by a simple narrative.
        
               | FeepingCreature wrote:
               | Simple solutions can still have complex effects. There's
               | no contradiction here.
        
               | nikolay wrote:
               | That's a huge misconception and poor science. In fact,
               | enteric-coated aspirin is worse as it could cause
               | bleeding in the intestines, which is worse. There are
               | plenty of studies that show taking aspirin with vitamin C
               | or DGL does not cause bleeding! I think taking it
               | alongside collagen/gelatin also prevents bleeding.
               | 
               | There was a sublingual form, which I cannot find
               | (Fasprin). Also, there's Vazalore, which might be
               | liposomal. I don't know, but the effervescent Aspirin C
               | by Bayer is amazing! It works very well for gargles for
               | sour throat, too!
        
               | nikolay wrote:
               | A lot more people die from Tylenol, and millions
               | accumulate damage to their livers, but it is still OTC,
               | and people believe it's less dangerous than Aspirin.
        
               | nucleardog wrote:
               | Except that for women that are pregnant or nursing and
               | babies under 6 months old, Tylenol _is_ less dangerous
               | than Aspirin. (It's the only OTC painkiller or
               | antipyretic available that's considered safe.)
               | 
               | Which kinda leads us back to the greater point here...
               | There are no simple answers to complex biological
               | problems.
        
               | nikolay wrote:
               | Probably, but the other damage from Tylenol is that it's
               | been misused to lower fevers that don't need to be
               | lowered and thus disarming the immune system.
        
           | tim333 wrote:
           | Scurvy? The history on that one is quite interesting
           | https://en.wikipedia.org/wiki/Scurvy#History
        
             | dekhn wrote:
             | Actually, that's a pretty good counterexample, and I guess
             | it's fair to list a few other nutritional diseases as well
             | (rickets, beriberi, pellagra) that have straightforward
             | causes, and treatments with minimal side effects.
        
       | atleastoptimal wrote:
       | This will be necessary as prions have been proven to persist in
       | the environment (plants that grow over the soil where deer with
       | CWD decompose can transmit the disease to animals that eat them).
       | 
       | Prions are both 100% fatal and virtually indestructible. It's
       | like some sort of glitch universal kill-switch biology happened
       | upon encoded by hell itself.
        
         | j_bum wrote:
         | Prions: the final selfish gene protein
        
         | complaintdept wrote:
         | > plants that grow over the soil where deer with CWD decompose
         | can transmit the disease to animals that eat them
         | 
         | I've heard this before but the last I tried looking into it I
         | could only find a single study with these findings. Do you know
         | if this was ever replicated? If so, I'd be interested in
         | reading it -- I have to wonder how careful the researchers were
         | to isolate the raw plant material from the contaminated soil,
         | which may have non-plant matter transmitting the prion. Plants
         | transmitting a prion is just hard for me to believe.
        
           | A_D_E_P_T wrote:
           | That single study came out like six months ago: https://www.s
           | ciencedirect.com/science/article/pii/S258900422...
           | 
           | It'll probably be a year or two until an attempt at
           | replication is published.
           | 
           | Anyway, the details are all there. It's an open-access paper.
           | (I'm enjoying this new trend where almost everything worth
           | reading is published in open-access journals.)
        
             | flobosg wrote:
             | Here's a study from 2015: https://www.sciencedirect.com/sci
             | ence/article/pii/S221112471...
        
             | complaintdept wrote:
             | Thanks, sibling to this comment posted the one I was
             | thinking of. The study you posted appears to confirm their
             | findings. This is...alarming.
        
         | beambot wrote:
         | Prions are the ice-nine of biology...
        
           | vaylian wrote:
           | Sounds like you are making a reference. Can you link to an
           | explanation?
        
             | bell-cot wrote:
             | https://en.wikipedia.org/wiki/Ice-nine
        
             | dudeinjapan wrote:
             | https://youtu.be/moSFlvxnbgk?si=oySyULUikorE8Gj_
        
           | jcul wrote:
           | Great analogy, and one of my favorite books, of which I'm due
           | a re-read, thanks for the reminder.
        
           | teeray wrote:
           | Biological strangelets
        
         | Thorrez wrote:
         | This new treatment disables a gene that creates prions. It
         | doesn't help you against prions from the environment.
        
           | amluto wrote:
           | If the treatment works, it should work against acquired
           | prions. Acquired prions are dangerous because even a minute
           | amount that makes it to susceptible tissue (the brain) can
           | convert endogenous prion protein to the dangerous, misfolded
           | form.
           | 
           | If the treatment successfully turns off production of
           | endogenous prion protein, then there won't be any there to
           | convert, and the disease (theoretically) won't progress, and
           | there's some reason to believe that it might even reverse
           | itself to at least some extent.
        
             | Enginerrrd wrote:
             | >If the treatment successfully turns off production of
             | endogenous prion protein, then there won't be any there to
             | convert, and the disease (theoretically) won't progress
             | 
             | Yeah that's true, but given how ubiquitous PRNP is in
             | mammals, this could also produce some form of memory,
             | cognitive, or other deficit.
        
         | TeMPOraL wrote:
         | > _It 's like some sort of glitch universal kill-switch biology
         | happened upon encoded by hell itself._
         | 
         | Proving once again, that true Eldritch horrors are not out
         | there, but right here; not in the cosmos, but in microcosm.
         | _Nature_ is the ancient mad god, and it 's not the telescope
         | but the _microscope_ that will take away your sanity.
        
           | yareally wrote:
           | Considering some prions slowly take away your ability to
           | sleep, it really is the stuff of nightmares
        
             | tetris11 wrote:
             | (nods soberly, whilst sipping 10th coffee of the day)
        
         | roenxi wrote:
         | > ... Prions are both 100% fatal...
         | 
         | I'd bet they aren't. Fatal once visible symptoms are present,
         | probably. COVID had a CFR that was beyond horrible while the
         | only cases that they were tracking were the ones that had made
         | it to hospital. 100% CFR is certainly _possible_ , but unless
         | we have cheap ways of measuring prevalence it seems improbable.
         | There could be common prion diseases that have managed to fly
         | under the radar so far.
        
           | ch4s3 wrote:
           | I think the underlying biology here is pretty well known.
           | They bump around in your body causing proteins to misfold
           | which cascades as badly folded proteins bump into other
           | proteins and cause misfolding. This eventually kills you,
           | because there's no immune mechanism to purge misfolded
           | proteins or to correct them.
        
             | Enginerrrd wrote:
             | Yes, but there's quite a bit of variation in how
             | susceptible an individual's PrP is (genetic variation) to a
             | particular strain of prion. That matters a LOT in terms of
             | likelihood of getting infected, and duration of disease
             | progression.
        
           | flobosg wrote:
           | https://en.wikipedia.org/wiki/List_of_human_disease_case_fat.
           | ..
        
       | unsupp0rted wrote:
       | If this works, I wonder if we'll discover that a bunch of
       | diseases and conditions we thought were genetic, bacterial or
       | viral are actually just prions causing us to go nuts.
        
       | im3w1l wrote:
       | Amazing work. But I have some questions. The tool lowers the
       | amount of the protein by 80%. That seems a bit low? Like I'm sure
       | it's way better than nothing, but is it really enough?
       | 
       | Also they say that the gene is turned off permanently, but is
       | that really so? I thought epigenetic changes gradually revert
       | themselves - though I suppose that just means you have to reapply
       | the treatment every n years.
        
         | vikramkr wrote:
         | Those are great questions. The answer is going to vary (quite
         | dramatically) by the target disease, target cell type, intended
         | effect, etc. For example they mention that 21 percent
         | elimination can 'reduce symptoms', so you could be looking at a
         | situation where 80% elimination slows down the progression
         | enough that the low-symptom phase of the disease lasts long
         | enough that you can die of some other age related complicated
         | instead. Die with the disease instead of die because of the
         | disease - you see that as a common goal in oncology now, and in
         | treating diseases like HIV. Rate of reversion might depend on
         | the cell type.
         | 
         | Add in the aspect that it looks like they want to work with a
         | new AAV vector optimized for the brain (looks like the
         | compactness of this epigenetic editor is one of the advantages
         | which tracks, can fit in an AAV then). So if there are muliple
         | applications required there's also questions of, what if in
         | future applications there's an immune response against the AAV
         | used that reduces uptake, etc etc.
         | 
         | These questions (along with all the others) tend to be super
         | complicated to answer, which is why all this stuff (more mouse
         | trials, clinical trials, manufacturing, etc) can be so
         | long/complicated/expensive. Clinical trials are also lit in
         | that you boil all the unknown knowns and unknowns into 'let's
         | just check and see if it's safe and if it works.'
        
       | flobosg wrote:
       | Related discussion, from last week:
       | https://news.ycombinator.com/item?id=40859876
        
       | rockinghigh wrote:
       | The actual paper: Brainwide silencing of prion protein by AAV-
       | mediated delivery of an engineered compact epigenetic editor
       | https://www.science.org/doi/10.1126/science.ado7082
        
       | willmadden wrote:
       | Prions aren't highly communicable. You could also be struck by
       | lightning or be hit by a car. This isn't a big priority.
        
         | VyseofArcadia wrote:
         | It is for the researchers. They're a husband-wife team who got
         | into the field _because_ she carries the gene for fatal
         | familial insomnia.
        
         | tim333 wrote:
         | Still the tech may help with prion like diseases which are
         | common:
         | 
         | >There is also evidence suggesting prions may play a part in
         | the process of Alzheimer's disease, Parkinson's disease, and
         | amyotrophic lateral sclerosis (ALS); these have been termed
         | prion-like diseases. (wikipedia)
        
         | vikramkr wrote:
         | You're saying you'd rather society not invest in fundamental
         | research into new mechanisms of curing disease with
         | applications to prions (medically and economically
         | devastating), genetic disease, and potentially
         | neurodegeneration? Also even if you were correct about this
         | area of research not being a big priority, failing to invest in
         | small priorities is a pretty solid way to lose your
         | technological edge and competitiveness as a nation so let's not
         | kneecap ourselves for no reason.
        
       | LinuxBender wrote:
       | Please forgive my naive question, this is not my area of
       | expertise. Will this be something I can inject my deer with to
       | cure or prevent CWD, or does it require injecting something into
       | the brain or spine? Or for that matter, how will it be
       | administered to humans?
        
         | tim333 wrote:
         | It's a bit hypothetical with the deer. In the article it looks
         | like they injected the thing into the brains of mice.
        
           | LinuxBender wrote:
           | _injected the thing into the brains of mice_
           | 
           | That's a bit beyond my skill-set. I would probably end up
           | with some paralyzed animals.
        
             | tim333 wrote:
             | I don't think they have a treatment that works anyway. The
             | thing in the article is just a step in that direction.
        
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