Found ‘Clue’ That Can Fundamentally Treat Autism Spectrum Disorder

Summary: A newly discovered cell-specific molecular network associated with ASD could lay the groundwork for finding an effective treatment for those with autism.

Source: DGIST

Professor Kim Min-sik’s team of the Department of New Biology, DGIST (President: Kuk Yang), succeeded in identifying the cell-specific molecular network of autism spectrum disorder. It is expected to lay the foundation for treating autism spectrum disorder.

Autism spectrum disorder is known to occur from early childhood and is a neuro-developmental disorder characterized by continuous impairment of social communication and interaction-related behaviors leading to limited ranges of behavioral patterns, interests, and activities, and repetitive behaviors.

Most autism spectrum disorder patients have behavioral disorders, sometimes accompanied by other developmental disabilities. Currently, since there is no accurate molecular diagnosis method, early diagnosis of autism spectrum disorder is made at a fairly late period, and there is no appropriate treatment.

Professor Kim Min-sik’s team utilized the Cntnap2 defect model, a spectral disorder mouse model established by Professor Lee Yong-Seok’s team at Seoul National University College of Medicine to extract prefrontal cortex tissue and performed mass spectrometry-based integrated quantitative proteomic and metabolomic analysis.

This shows a child playing with blocks
Most autism spectrum disorder patients have behavioral disorders, sometimes accompanied by other developmental disabilities. Image is in the public domain

In addition, by comparing and analyzing this with previously reported big data of autism spectrum disorder patients, the team confirmed that problems occur in networks such as metabolism and synapses in excitable neurons.

Professor Kim Min-sik of the Department of New Biology said, “The multi-omics integrated analysis technology developed through this study has advanced the pathological understanding of autism spectrum disorder and made it possible to discover an integrated network ranging from molecular-level cell differentiation induced by a specific autism gene to biometric information,“ and added,

“We are trying to find the core network of autism spectrum disorder and discover treatment targets by conducting an integrated analysis of various models.”

Meanwhile, the results of this research were published in ‘Molecular Psychiatry’ on October 17, 2022, and this research was carried out with support from the Brain Science Source Technology Development Project of the Ministry of Science and ICT.

About this autism research news

Author: Kwanghoon CHOI
Source: DGIST
Contact: Kwanghoon CHOI – DGIST
Image: The image is in the public domain

Original Research: Open access.
Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis” by Kim Min-sik et al. Molecular Psychiatry


Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis

Autism spectrum disorder (ASD) is a major neurodevelopmental disorder in which patients present with core symptoms of social communication impairment, restricted interest, and repetitive behaviors.

Although various studies have been performed to identify ASD-related mechanisms, ASD pathology is still poorly understood. CNTNAP2 genetic variants have been found that represent ASD genetic risk factors, and disruption of Cntnap2 expression has been associated with ASD phenotypes in mice.

In this study, we performed an integrative multi-omics analysis by combining quantitative proteometabolomic data obtained with Cntnap2 knockout (KO) mice with multi-omics data obtained from ASD patients and forebrain organoids to elucidate Cntnap2-dependent molecular networks in ASD.

To this end, a mass spectrometry-based proteometabolomic analysis of the medial prefrontal cortex in Cntnap2 KO mice led to the identification of Cntnap2-associated molecular features, and these features were assessed in combination with multi-omics data obtained on the prefrontal cortex in ASD patients to identify bona fide ASD cellular processes.

Furthermore, a reanalysis of single-cell RNA sequencing data obtained from forebrain organoids derived from patients with CNTNAP2-associated ASD revealed that the aforementioned identified ASD processes were mainly linked to excitatory neurons.

On the basis of these data, we constructed Cntnap2-associated ASD network models showing mitochondrial dysfunction, axonal impairment, and synaptic activity. Our results may shed light on the Cntnap2-dependent molecular networks in ASD.

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  1. It’s important to consider what would be lost in any adjustments to the autistic brain which in my experience encompasses more beauty, creativity, intelligence and plain sense than the majority brain style.
    It would be a massive loss to society to risk a loss or reduction in original thought and creativity.
    Someone above mentioned profound struggles such as being non verbal, toileting etc. However different diagnosis can be comorbid with other difficulties. First we must distinguish between these, before we even attempt to adjust the neurobiology of a person.
    I immediately thought of the young author of ‘Speechless’ Fiacra Ryan, who happens to be non verbal.
    His view of the world he occupies is shared through his poetry. His expression is far beyond his developmental age, the truth & beauty explored in his work resonates with all readers as it explores common themes in the human condition, including relationship.
    Funnily enough rigidity is an often quoted feature of autism that can be viewed as a deficit. However it’s the rigidity of a society that attempts not to bend to accommodate difference that seems most persistent. Small adjustments can often be the key to allowing & facilitating flourishing in those with more synapses sparking between their neurons, than those with less…
    Indeed an adjustment here, would be a loss for us all.

  2. please listen to the majority of autistic people, we do not want a cure we want to be understood and loved.

  3. How do you know what kind of father @Jason is?!
    People should understand that not all people on the spectrum are similar.Of course someone like @Annie don’t need fixing. Einstein called autistic and nonverbal adults with learning disabilities called autistic too, totally different cases. I don’t think any parent will try to fix their children if they have different perspective or some quirks but if a child is severe, if a child is non verbal, if a child has sensory issues-means terrified of sounds, textures etc, sleeping issues, food issues, if child can’t get toilet trained, if a child can’t say what they want, what they need etc of course parent will try to help them, heal their issues because children are suffering in those situations and their parents too, please don’t judge parents for that.

    And @Alicia maybe not you but ABA has helped hundreds of children.
    Please dont judge parents who just trying to help their kids.

    1. @Annabell: With all my respect to you I have never met a single autistic adult who said ABA therapy helped them as a child, they all described it as abuse that ruined their lives even into adulthood.

    2. I hope you feel understood & loved by some in your community. You are so important even though that may not be communicated to you which is unfair. Thank you for expressing a very important need… for all.

  4. This is very interesting. My son (8) is on the spectrum and his biggest obstacle (in his opinion) is making friends. Maybe this type of research can give insight into new therapeutic methods. Regardless he will be interested in learning which part of his brain makes eye contact difficult. And to those of you concerned about the eugenics angle, i feel that but knowledge is wonderful. Knowing why we are different is incredibly interesting.

  5. Now, I’m not a neurobiological or anything, but it doesn’t sound like anything has been found to “fundamentally” do anything. And I’m glad, because as another commenter said, trying to “cute” autism is eugenics, pure and simple.

  6. Just like the 2 PEOPLE before me; i dont need fixing, we’re not some broken kitchen appliance that irritates you.
    What about out intelligence.
    You gonna “fix” that too?
    The world needs people like us because we are free thinkers but instead people like us are treated as if we are insane.
    Have you seen the state of the world lately..?
    Name 1 dictator alive right now that has autism.
    Does putin have autism?
    Does trump?
    Did sadam hussein?
    Did Hitler?
    WE are NOT the problem!
    And you really want to take what makes us unique away and create more people like you?
    Sincerely, go fuck yourself

    1. Hi,

      I am also diagnosed as autistic.

      It saddens me deeply that old barbaric beliefs are returning to this world beliefs, which should have long been forgotten.

      I fear where this grim future takes us…

      1. I couldn’t agree more. In fact, in Autistic people’s eyes,most neurotypical people are constantly lying and covertly manipulating others by saying one thing and meaning another.

        I find those to be extremely unpleasant and undesirable traits in a human being. When are we going to start using eugenics to eradicate these poor social skills?

  7. Jason, you should avoid telling others to keep comments to themselves, and should especially avoid doing so as bluntly as you did – it is rude and aggressive. I sympathise with the plight of your autistic children, but Annie and Droslovina make equally valid points. Science seeks knowledge “for the greater good” but science can too often create ‘Frankenstein’s Monsters'(the atomic bomb and atrocious Nazi medical tortures for example). Therefore others have a duty, not just a right, to speak up.

    1. And how is denying access to potentially life-altering treatment to autistic people who want it any better? We have no hesitation offering hearing aids or prosthetics, but suddenly when it comes to autism we’re expected to force children to live a life they don’t want to live just cause it makes you feel wholesome or whatever? Some of us want this. Some of us NEED this, and it’s people like Annie who claim to speak for all of us who are keeping us from having better, easier, more productive lives. I’m tired of fighting, I’m tired of struggling, and most of all I’m tired of activists telling me what I’m allowed to want

  8. Annie, keep your comments to yourself. I have 2 autistic children that suffer greatly and could really use something more than therapy.

    1. @Jason youre such a short sighted ignorant fool.
      Your kids dont need fixing, how about giving them a chance to develop properly before you tell yourself your kids are wrong.
      Maybe you are wrong.
      Maybe we dont need more people like you.
      Are your autistic kids really suffering, or are you?
      This world might not revolve around people with autism but that’s OK.
      It’s the risk of having kids and you should learn to live with it.
      Just because your kids need something more than therapy doesnt mean there’s something deeply wrong with them, it means that this world is usually too stubborn to cather to their individual needs.
      And the only way that will ever change is by informing people, which is what i’m doing right now.
      I’ll leave you with this; what they dont need is their own parent labelling them as some misfits that need “fixing”.
      What a terible father you are

      1. Stop it, you are being awful. I am neuro diverse with neuro diverse children. I struggle at times as do my children, it’s not all rainbows and unicorns. I am happy for any research into autism and other disorders associated with it. You can speak for yourself but you don’t speak for everyone.

      2. You no doubt are confussing Sensory Processing Disorder with Autism. Autism is there Neurotype and SPD is part of what makes life painful for us. There is treatment for it. Please realize the difference. If you want help I encourage you to go to look up ” Ask An Autistic” on youtube. The community is here to help you please ask and don’t shut us out. We know best what life is like for your daughters and want to help you!! Good Luck.

      3. Hello, autistic person here. Yes some of us ARE suffering, some of us are miserable, some of us just want to be normal, maybe YOU are the arrogant one trying to white knight and play a self righteous hero forcing children to live their mediocre lives. Jason clearly wants a better life for his children. I would have been furious to find your my mother did not want the same for me, and did not do everything in her power to give me the best life possible. Jason, keep being an amazing parent and protecting your children. The world needs more parents like you who refuse to settle for “this is the best we can do” and strive to do better

      4. I don’t think you could have written a more vicious response. You shut down dialogue and congratulate yourself.

    2. I am very interested in this, also with 2 kids with one confirmed diagnosis at age 15. We are devastated. The other age 11. Happy for Annie obviously. But some of us are battling.

    3. They suffer greatly. How do they suffer? Is it lack of friends? Do they have some kind of behavioral problem? What I often find is any cures that are talked about is just to make autistics easier for neurotypicals to deal with. Psychopaths have a different brain too. But they don’t talk about cures for that. Or what about the kids with ADHD? How often do they bring up cures for that?

      Do your children suffer? Do you know in what ways or are you assuming because, to you, it seems like suffering?

      I’ve seen kids that are deaf, blind, and mentally handicapped. All at once. Are your kids like that? Because at that point, I’m really not sure the autism even matters.

      What have you tried? Because some parents of autistic children seem to think they need to ‘fix’ their child. Like they’re broken. Kids feel that. They know you’re disappointed in them, even if you think you hide it well.

      What kind of therapy? Because, not for nothing, it’s very hard to accurately explain how my autism effects me to a neurotypical. And I’m an adult. I can’t imagine how much harder it would be for a child.

      Autism is much more in the spotlight. Partly because we’re irritating to neurotypicals. Partly because, in general, we’ve started trying to advocate for ourselves. Because it’s far to easy to want to rid yourself of an inconvenience than to deal with it.

      I don’t know you or your children. But I understand what it’s like to grow up autistic and always have to mask because God forbid you be yourself. Maybe I’m completely wrong and your children are suffering incredibly. But I also know that anyone ‘other’ is often expected to adapt and adjust even when it hurts them to do so.

  9. I’m with Annie. The first clue is how the authors view neurodiverse people as having a “disorder.”

  10. I’m autistic and I don’t want or need a cure. This article is advocating for medical eugenics. I have friends and a great quality of life. My autism gives me a unique perspective that adds to the diversity of the world. We don’t want this, stop it.

    1. It would be interesting to know your age and would you benefited more to have had a healthy diet as most autistic children refuse to eat at time because of the texture of the food. No Eugenics will reduce your abilities but will and could help those by nutrition and communication at younger ages.

    2. I agree with Annie, and i was once considered to have severe, low-functioning autism. I feel compassion for parents with very sick children, but severe intellectual and behavioral disorders are not autism, but comorbid disorders. You could magically “cure” your child of autism, but the child would still have the comorbid disorders.Also, my daughter and i both went from completely non verbal to speaking well with just therapy, tho it did take several years (me about 5th grade, my daughter at 3rd). As long as its not ABA, dont give up on therapy!

    3. That’s fantastic, and I love that for you. I’m also autistic and I desperately DO want a cure. I do not have friends and have a terrible quality of life. You do not speak for me. Do not pretend you speak for all of us. Stop trying to get in the way of those of us who want to live normal lives.

      1. Neither do you. I am autistic and perfectly fine. You will never have friends if you do not stop this creepy self-hating attitude. I am convinced it is not autism that is your problem.

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