8 ms·

Knocking out one key gene leads to autistic traits

43 points by marc__1 2y ago

kulahan 2y ago
A family member of mine has been working with research teams to try and understand this disorder. I truly think we're at the point where a cure might be feasible - years ago, I remember them talking about trying to detect autism in the womb!
- juliushuijnk 2y ago
  The way I understand it, autism is no a disease. Both in that there is no single cause, but a collection of traits. And in that some people have autism don't view it as something that needs to be cured. Happy to be corrected by someone with more expertise. Let's hope the research will further improve our understanding and can provide help where needed.
  - squigz 2y ago
    > some people have autism don't view it as something that needs to be cured. Some of us do. I'm glad for any research in this field.
  - throwaway48540 2y ago
    > And in that some people have autism don't view it as something that needs to be cured. Please, don't conflate these people with the other end of the spectrum, where those suffering are absolutely unable to live any kind of life at all. I have a friend who has an autistic son. The autism makes him a 5-year old hyperactive child in a 20-year old body. He needs help.
    - __MatrixMan__ 2y ago
      Your language hints at something that I've always wondered about: > with the other end of the spectrum I had always figured that the use of "spectrum" here implied that we're all on it, and that some of us are on it in more or less problematic places. Is that not so? Are there people who are not on said spectrum?
      - cogman10 2y ago
        It's a cluster of symptoms that is quiet wide, but no not everyone is on the spectrum. For example, some individuals have high sensitivity to sensory input. On the low end of the spectrum that can mean that some cloths (like pleated cloth) can't be worn because it feels too "weird". On the other end, it can be as extreme as not being able to tolerate almost any food as you can only tolerate some textures and tastes in your mouth. Definitely with the latest DSM, a lot more people are viewed as having ASD because it widened the definition. Primarily because these symptoms tend to occur together and treatments are basically the same despite the cluster of symptoms.
      - ackfoobar 2y ago
        I'm also annoyed at the everyday usages of the word "spectrum". But here I guess you can understand "autism spectrum" as a part of the whole personality spectrum, similar to how the "visible spectrum" is a part of the EM wave spectrum.
      - mccrory 2y ago
        My understanding is that it is a large collection of traits and that a person might have no traits or possibly even 1 or 2 that are very minor and NOT be on the spectrum. Someone else might have 1 severe trait and be on the spectrum and someone else might need 5 traits to be diagnosed as on the spectrum. Don’t think of it as a continuous spectrum but more of a collection of traits that are of little or no severity to high severity where as was mentioned before, the person has little or no quality of life.
      - detourdog 2y ago
        There is definitely A school of thought that every personality trait is within in ourselves. Various factors can lead people to move along a spectrum. A whole self represents a balancing of the spectrums. Some end up with a propensity to dwell at certain points along the spectrum. This becomes one’s personality. Personality disorders happen when one is frustrated by their perceptions and a consensus reaction. This is where there are boundaries and establishing healthy boundaries is considered a way to a whole self. If someone finds themselves struggling with multiple human interactions they need to evaluate why the interactions aren’t working. The final thought is that a mature person can evaluate what went wrong and figure out on their own or with healthy communication with others. An immature person develops coping mechanisms such as avoidant and hopes for the best in the future.
    - fwip 2y ago
      > unable to live any kind of life at all. This kind of language is awfully eugenics-adjacent, and part of why autistic people resent having neurotypical people tell them how they should feel about it. If he's "not living any kind of life", it's a short hop to saying it would be better if he died, or was never born. Even if he's a "5-year old child," even children lead meaningful lives.
      - spencerchubb 2y ago
        Who said anything about eugenics or killing autistic people? The comment chain is discussing hypothetical cures for autism
        fwip 2y ago
        I did. Saying that a person is not living a life worth living is a short, short hop from saying "well, why are we spending all these resources to keep them alive?" Further up the chain, somebody also mentioned detecting autism pre-birth. While this could lead to earlier intervention for autistic children, it also would lead to an increase in selective abortion of autistic fetuses, the same as any other condition we screen for. Which is a simple form of eugenics.
        throwaway48540 2y ago
        It's really not a short hop at all, it's a total opposite of the whole concept of "we're looking for ways to help the people with ASD".
        fwip 2y ago
        I'm not trying to attack you or say you wish ill for him. I'm trying to explain how your rhetoric (not your goals!) is philosophically aligned with people who don't want autistic people to exist.
      - throwaway48540 2y ago
        Eh, what? I'm suggesting he needs help.
  - cogman10 2y ago
    It's a spectrum. Anyone that is advocating that it need not be cured is someone that is on the less severe side of the spectrum. The severe side implies significant mental handicaps. I don't think that it will ever be "cured". But I'm happy for research that helps with symptoms and improves the quality of life of those with autism.
    - JohnMakin 2y ago
      > Anyone that is advocating that it need not be cured is someone that is on the less severe side of the spectrum You are completely misunderstanding the point being made by people that push back against this kind of language. Any argument that autism spectrum disorder is something that should be "cured" is directly and significantly contributing to stigmatism surrounding the disorder and is extraordinarily insulting to many people.
      - cogman10 2y ago
        No I'm not. I certainly agree that acceptance and societal accommodation for autism is necessary. However, there is a loud set of people with ASD who will say that any sort of therapy or treatment harms people with ASD. Therapy doesn't cure ASD and I've never thought that or been told that as a parent with a child with ASD. Therapy helps a kid cope. I do understand that early autism therapies were brutal and inhumane, however, those are by and large completely gone from modern autism therapy. What's extremely insulting is believing that all forms of autism are just societal misunderstandings that need no therapeutic interventions for the individual with ASD.
        squigz 2y ago
        > What's extremely insulting is believing that all forms of autism are just societal misunderstandings that need no therapeutic interventions for the individual with ASD. This sums it up very nicely. Thank you.
        JohnMakin 2y ago
        > What's extremely insulting is believing that all forms of autism are just societal misunderstandings that need no therapeutic interventions for the individual with ASD. I’d very much like to hear what your definitions of “autism” are, for the classroom to see, because I’m sure it’d be illuminating. also no one is really presenting the argument you’re arguing against here, but cool. The terms and language you’re using here at best suggests you’re extremely ignorant and at worst suggests that you clearly hate or hold a lot of stigma against “autistic” people (not the preferred nomenclature) and see them as a societal ill. That’s what a lot of people are pushing back against.
- dimal 2y ago
  Are you sure you want that? We could lose people like like Alan Turing, Albert Einstein and Isaac Newton in the bargain. The estimates now are that autism affects about 1 in 35 people. That’s not a disorder. That’s human diversity. I realize that there are less lucky autistic people who are severely disabled. If this helps them, then good, but I don’t want to be cured. I want to be accepted. And the way our medical system works now, I don’t trust that any treatments will only be used to help those who most need it. Children who simply need acceptance and a little support will be drugged, because that will be the convenient option.
  - darby_nine 2y ago
    I certainly wouldn't want to change myself, but autistic people kill themselves at rates many times that of the general population. It may not be a disorder but it's certainly capable of impacting peoples' lives negatively.
    - ndynan 2y ago
      Taking another perspective here, is suicidaility an individual problem or a social one?
      - bravura 2y ago
        Alternately, we could amplify the gene in the entire population, so that allism becomes a disorder. From DSM-2300: https://www.fysh.org/~zefram/allism/allism_intro.txt https://www.fysh.org/~zefram/allism/allism_intro.txt edit: "The underlying trait that makes people allistic is a dysfunction of the parts of the brain dealing with emotion. Allistic people lack the capacity to independently experience emotions. That is not to say they lack emotions: far from it, the allistic mind experiences emotions just like any other. The dysfunction is that the allistic person's emotional state is not determined by eir own thought processes but instead is borrowed from other people that are expressing emotion nearby. Emotional cues in tone of voice, posture, facial expression, and so on, cause the allistic person to automatically and unavoidably experience the same emotion being expressed."
BurningFrog 2y ago
...in mice!
- FeepingCreature 2y ago
  :sings: "Autism caused by turning off one gene!" " ... in mice!" (Sadly, I don't have the lyrical skills for the rest of the song.)
  - janwillemb 2y ago
    Here you go. The ai seems to avoid the term "autism"? Probably configured that way. https://suno.com/song/9b69cf3a-dbf7-4642-a229-3fa1bcc43e11 https://suno.com/song/9b69cf3a-dbf7-4642-a229-3fa1bcc43e11
    - FeepingCreature 2y ago
      I was thinking of "The Internet Is For Porn", lol. "Every sickness is cured in mice / every illness is cured in mice / we can treat it for a price in mice, mice, mice!"
- biomcgary 2y ago
  with a specific genetic background (strain C57BL/6J) and environmental conditions. . . It is broadly underappreciated that most gene knockout experiments in mice are not replicated across multiple genetic backgrounds, which can have significant impact on phenotypic expression.
fsckboy 2y ago
Knocking out one key gene leads to traits that have some similarity to autistic traits; in mice, namely less vocalization and socialization, more hyperactive and repetitive behaviors. so, we're talking about at a very zoomed out level, but the gene responsible is already "implicated" in human neurodevelopmental conditions in the cerebellum.
- hmry 2y ago
  Wow, the headline severly overstates the case then...
  - fredgrott 2y ago
    for context, ADHD, Parkisons, Autistic are different mechanisms of dopamine deficiencies... Never ever will be one gene....For example Parkisons has one gene that affects VMAT2 formation and one involving the GI lining that is involved in taking up dopamine building blocks from GI actions on food.
    - polskibus 2y ago
      This article seems to disagree https://www.cam.ac.uk/research/news/imaging-study-shows-dopamine-dysfunction-is-not-the-main-cause-of-attention-deficit-hyperactivity https://www.cam.ac.uk/research/news/imaging-study-shows-dopa...
mass_and_energy 2y ago
Does this open the door to genetic screening of the unborn child to test for autism? One of the main reasons that I as someone living with autism don't intend on having biological children is because I don't want them to grow up with it, but testing for it would really change that.
- mystified5016 2y ago
  No. Maybe in a decade or three.
squigz 2y ago
I'm going to post this as a top-level comment since there's too many people I want to respond to. There's a lot of important discussion when this sort of topic comes up. I agree that this might be a slippery slope if applied incorrectly, but that isn't a good reason not to conduct the research. I also don't ever see anyone applying that slippery slope argument to, say, blindness research. Anyway, what's more important to me is that there's always suggestions that autism isn't something that needs to be cured, because all we need is for society to be more accepting of us, and we'll be okay. That's really only part of the picture. Autism affects every moment of our lives, not just when we're interacting with society. How will society being more accepting stop my sensory overload issues? Or help my executive disfunction, so I can properly take care of myself? How will it help our difficulties connecting with people, even when those people are already accepting and patient with us? I have to wonder where people who suggest these things fall on the spectrum, to think that the problems living with autism are so limited.
- greyface- 2y ago
  > I also don't ever see anyone applying that slippery slope argument to, say, blindness research I don't see it in blindness research, but I do see it in deafness research, where it is sometimes claimed that curing deafness will lead to a form of cultural genocide.
  - squigz 2y ago
    Quite good point, which really just highlights the 'hypocrisy' here. (That might not be the best word, but it's the only one I can think of.)
- ImJamal 2y ago
  I think it is because everybody can accept that blindness is a defect. Eyes are supposed to see. If they don't they are broken. When it comes to autism, at least the more mild forms, it is just a range of characteristics that can be found in non-autistic people. Somebody is less social or can't understand sarcasm or whatever, well that doesn't mean the person is autistic and it doesn't mean they have a medical problem. We don't say a guy who is 5 feet or 6 foot 5 inches has a medical problem. We say that is fine and within the "acceptable" range. Somebody who has dwarfism does have a medical condition. I think autism is the same. Those with mild forms of autism may see it as an attack on them or their characteristics. Not sure if that made sense?
olliej 2y ago
1) in mice 2) autism like traits 3) plenty of other cases of “knock out one gene” lead to everything from allergies to neurological problems, to missing limbs and organs. It should not be surprising that someone could find a gene that caused neurological issues, that look similar to autism when you lack all the methods for distinguishing autism from any other neurological disorder.
rzmmm 2y ago
In my opinion this kind of genetic research on autism strengthens the view that mild to moderate autistic traits are inherited features, not pathological diseases. The heritability estimates of autistic traits are very high, even higher than e.g. human height. I don't want to undermine the real symptoms of anyone with autism, I'm sure they can be a real pain. But I'm skeptical of e.g. treating autism with therapy, it reminds me of conversion therapies.
- ddmf 2y ago
  ABA is based on the same research by lovaas that is used for conversion therapy.

43 points by marc__1 2y ago

A family member of mine has been working with research teams to try and understand this disorder. I truly think we're at the point where a cure might be feasible - years ago, I remember them talking about trying to detect autism in the womb!

juliushuijnk 2y ago
The way I understand it, autism is no a disease. Both in that there is no single cause, but a collection of traits. And in that some people have autism don't view it as something that needs to be cured. Happy to be corrected by someone with more expertise. Let's hope the research will further improve our understanding and can provide help where needed.
- squigz 2y ago
  > some people have autism don't view it as something that needs to be cured. Some of us do. I'm glad for any research in this field.
- throwaway48540 2y ago
  > And in that some people have autism don't view it as something that needs to be cured. Please, don't conflate these people with the other end of the spectrum, where those suffering are absolutely unable to live any kind of life at all. I have a friend who has an autistic son. The autism makes him a 5-year old hyperactive child in a 20-year old body. He needs help.
  - __MatrixMan__ 2y ago
    Your language hints at something that I've always wondered about: > with the other end of the spectrum I had always figured that the use of "spectrum" here implied that we're all on it, and that some of us are on it in more or less problematic places. Is that not so? Are there people who are not on said spectrum?
    - cogman10 2y ago
      It's a cluster of symptoms that is quiet wide, but no not everyone is on the spectrum. For example, some individuals have high sensitivity to sensory input. On the low end of the spectrum that can mean that some cloths (like pleated cloth) can't be worn because it feels too "weird". On the other end, it can be as extreme as not being able to tolerate almost any food as you can only tolerate some textures and tastes in your mouth. Definitely with the latest DSM, a lot more people are viewed as having ASD because it widened the definition. Primarily because these symptoms tend to occur together and treatments are basically the same despite the cluster of symptoms.
    - ackfoobar 2y ago
      I'm also annoyed at the everyday usages of the word "spectrum". But here I guess you can understand "autism spectrum" as a part of the whole personality spectrum, similar to how the "visible spectrum" is a part of the EM wave spectrum.
    - mccrory 2y ago
      My understanding is that it is a large collection of traits and that a person might have no traits or possibly even 1 or 2 that are very minor and NOT be on the spectrum. Someone else might have 1 severe trait and be on the spectrum and someone else might need 5 traits to be diagnosed as on the spectrum. Don’t think of it as a continuous spectrum but more of a collection of traits that are of little or no severity to high severity where as was mentioned before, the person has little or no quality of life.
    - detourdog 2y ago
      There is definitely A school of thought that every personality trait is within in ourselves. Various factors can lead people to move along a spectrum. A whole self represents a balancing of the spectrums. Some end up with a propensity to dwell at certain points along the spectrum. This becomes one’s personality. Personality disorders happen when one is frustrated by their perceptions and a consensus reaction. This is where there are boundaries and establishing healthy boundaries is considered a way to a whole self. If someone finds themselves struggling with multiple human interactions they need to evaluate why the interactions aren’t working. The final thought is that a mature person can evaluate what went wrong and figure out on their own or with healthy communication with others. An immature person develops coping mechanisms such as avoidant and hopes for the best in the future.
  - fwip 2y ago
    > unable to live any kind of life at all. This kind of language is awfully eugenics-adjacent, and part of why autistic people resent having neurotypical people tell them how they should feel about it. If he's "not living any kind of life", it's a short hop to saying it would be better if he died, or was never born. Even if he's a "5-year old child," even children lead meaningful lives.
    - spencerchubb 2y ago
      Who said anything about eugenics or killing autistic people? The comment chain is discussing hypothetical cures for autism
      - fwip 2y ago
        I did. Saying that a person is not living a life worth living is a short, short hop from saying "well, why are we spending all these resources to keep them alive?" Further up the chain, somebody also mentioned detecting autism pre-birth. While this could lead to earlier intervention for autistic children, it also would lead to an increase in selective abortion of autistic fetuses, the same as any other condition we screen for. Which is a simple form of eugenics.
        throwaway48540 2y ago
        It's really not a short hop at all, it's a total opposite of the whole concept of "we're looking for ways to help the people with ASD".
        fwip 2y ago
        I'm not trying to attack you or say you wish ill for him. I'm trying to explain how your rhetoric (not your goals!) is philosophically aligned with people who don't want autistic people to exist.
    - throwaway48540 2y ago
      Eh, what? I'm suggesting he needs help.
- cogman10 2y ago
  It's a spectrum. Anyone that is advocating that it need not be cured is someone that is on the less severe side of the spectrum. The severe side implies significant mental handicaps. I don't think that it will ever be "cured". But I'm happy for research that helps with symptoms and improves the quality of life of those with autism.
  - JohnMakin 2y ago
    > Anyone that is advocating that it need not be cured is someone that is on the less severe side of the spectrum You are completely misunderstanding the point being made by people that push back against this kind of language. Any argument that autism spectrum disorder is something that should be "cured" is directly and significantly contributing to stigmatism surrounding the disorder and is extraordinarily insulting to many people.
    - cogman10 2y ago
      No I'm not. I certainly agree that acceptance and societal accommodation for autism is necessary. However, there is a loud set of people with ASD who will say that any sort of therapy or treatment harms people with ASD. Therapy doesn't cure ASD and I've never thought that or been told that as a parent with a child with ASD. Therapy helps a kid cope. I do understand that early autism therapies were brutal and inhumane, however, those are by and large completely gone from modern autism therapy. What's extremely insulting is believing that all forms of autism are just societal misunderstandings that need no therapeutic interventions for the individual with ASD.
      - squigz 2y ago
        > What's extremely insulting is believing that all forms of autism are just societal misunderstandings that need no therapeutic interventions for the individual with ASD. This sums it up very nicely. Thank you.
      - JohnMakin 2y ago
        > What's extremely insulting is believing that all forms of autism are just societal misunderstandings that need no therapeutic interventions for the individual with ASD. I’d very much like to hear what your definitions of “autism” are, for the classroom to see, because I’m sure it’d be illuminating. also no one is really presenting the argument you’re arguing against here, but cool. The terms and language you’re using here at best suggests you’re extremely ignorant and at worst suggests that you clearly hate or hold a lot of stigma against “autistic” people (not the preferred nomenclature) and see them as a societal ill. That’s what a lot of people are pushing back against.
dimal 2y ago
Are you sure you want that? We could lose people like like Alan Turing, Albert Einstein and Isaac Newton in the bargain. The estimates now are that autism affects about 1 in 35 people. That’s not a disorder. That’s human diversity. I realize that there are less lucky autistic people who are severely disabled. If this helps them, then good, but I don’t want to be cured. I want to be accepted. And the way our medical system works now, I don’t trust that any treatments will only be used to help those who most need it. Children who simply need acceptance and a little support will be drugged, because that will be the convenient option.
- darby_nine 2y ago
  I certainly wouldn't want to change myself, but autistic people kill themselves at rates many times that of the general population. It may not be a disorder but it's certainly capable of impacting peoples' lives negatively.
  - ndynan 2y ago
    Taking another perspective here, is suicidaility an individual problem or a social one?
    - bravura 2y ago
      Alternately, we could amplify the gene in the entire population, so that allism becomes a disorder. From DSM-2300: https://www.fysh.org/~zefram/allism/allism_intro.txt https://www.fysh.org/~zefram/allism/allism_intro.txt edit: "The underlying trait that makes people allistic is a dysfunction of the parts of the brain dealing with emotion. Allistic people lack the capacity to independently experience emotions. That is not to say they lack emotions: far from it, the allistic mind experiences emotions just like any other. The dysfunction is that the allistic person's emotional state is not determined by eir own thought processes but instead is borrowed from other people that are expressing emotion nearby. Emotional cues in tone of voice, posture, facial expression, and so on, cause the allistic person to automatically and unavoidably experience the same emotion being expressed."

BurningFrog 2y ago

...in mice!

FeepingCreature 2y ago
:sings: "Autism caused by turning off one gene!" " ... in mice!" (Sadly, I don't have the lyrical skills for the rest of the song.)
- janwillemb 2y ago
  Here you go. The ai seems to avoid the term "autism"? Probably configured that way. https://suno.com/song/9b69cf3a-dbf7-4642-a229-3fa1bcc43e11 https://suno.com/song/9b69cf3a-dbf7-4642-a229-3fa1bcc43e11
  - FeepingCreature 2y ago
    I was thinking of "The Internet Is For Porn", lol. "Every sickness is cured in mice / every illness is cured in mice / we can treat it for a price in mice, mice, mice!"
biomcgary 2y ago
with a specific genetic background (strain C57BL/6J) and environmental conditions. . . It is broadly underappreciated that most gene knockout experiments in mice are not replicated across multiple genetic backgrounds, which can have significant impact on phenotypic expression.

fsckboy 2y ago

Knocking out one key gene leads to traits that have some similarity to autistic traits; in mice, namely less vocalization and socialization, more hyperactive and repetitive behaviors. so, we're talking about at a very zoomed out level, but the gene responsible is already "implicated" in human neurodevelopmental conditions in the cerebellum.

hmry 2y ago
Wow, the headline severly overstates the case then...
- fredgrott 2y ago
  for context, ADHD, Parkisons, Autistic are different mechanisms of dopamine deficiencies... Never ever will be one gene....For example Parkisons has one gene that affects VMAT2 formation and one involving the GI lining that is involved in taking up dopamine building blocks from GI actions on food.
  - polskibus 2y ago
    This article seems to disagree https://www.cam.ac.uk/research/news/imaging-study-shows-dopamine-dysfunction-is-not-the-main-cause-of-attention-deficit-hyperactivity https://www.cam.ac.uk/research/news/imaging-study-shows-dopa...

mass_and_energy 2y ago

Does this open the door to genetic screening of the unborn child to test for autism? One of the main reasons that I as someone living with autism don't intend on having biological children is because I don't want them to grow up with it, but testing for it would really change that.

mystified5016 2y ago
No. Maybe in a decade or three.

squigz 2y ago

I'm going to post this as a top-level comment since there's too many people I want to respond to. There's a lot of important discussion when this sort of topic comes up. I agree that this might be a slippery slope if applied incorrectly, but that isn't a good reason not to conduct the research. I also don't ever see anyone applying that slippery slope argument to, say, blindness research. Anyway, what's more important to me is that there's always suggestions that autism isn't something that needs to be cured, because all we need is for society to be more accepting of us, and we'll be okay. That's really only part of the picture. Autism affects every moment of our lives, not just when we're interacting with society. How will society being more accepting stop my sensory overload issues? Or help my executive disfunction, so I can properly take care of myself? How will it help our difficulties connecting with people, even when those people are already accepting and patient with us? I have to wonder where people who suggest these things fall on the spectrum, to think that the problems living with autism are so limited.

greyface- 2y ago
> I also don't ever see anyone applying that slippery slope argument to, say, blindness research I don't see it in blindness research, but I do see it in deafness research, where it is sometimes claimed that curing deafness will lead to a form of cultural genocide.
- squigz 2y ago
  Quite good point, which really just highlights the 'hypocrisy' here. (That might not be the best word, but it's the only one I can think of.)
ImJamal 2y ago
I think it is because everybody can accept that blindness is a defect. Eyes are supposed to see. If they don't they are broken. When it comes to autism, at least the more mild forms, it is just a range of characteristics that can be found in non-autistic people. Somebody is less social or can't understand sarcasm or whatever, well that doesn't mean the person is autistic and it doesn't mean they have a medical problem. We don't say a guy who is 5 feet or 6 foot 5 inches has a medical problem. We say that is fine and within the "acceptable" range. Somebody who has dwarfism does have a medical condition. I think autism is the same. Those with mild forms of autism may see it as an attack on them or their characteristics. Not sure if that made sense?

olliej 2y ago

1) in mice 2) autism like traits 3) plenty of other cases of “knock out one gene” lead to everything from allergies to neurological problems, to missing limbs and organs. It should not be surprising that someone could find a gene that caused neurological issues, that look similar to autism when you lack all the methods for distinguishing autism from any other neurological disorder.

rzmmm 2y ago

In my opinion this kind of genetic research on autism strengthens the view that mild to moderate autistic traits are inherited features, not pathological diseases. The heritability estimates of autistic traits are very high, even higher than e.g. human height. I don't want to undermine the real symptoms of anyone with autism, I'm sure they can be a real pain. But I'm skeptical of e.g. treating autism with therapy, it reminds me of conversion therapies.

ddmf 2y ago
ABA is based on the same research by lovaas that is used for conversion therapy.