Hundreds of autism genes found to be triggered by a single key protein

Hi Folks,

The ff link might be of interest

https://newatlas.com/autism-genes-triggered-key-protein/55943/

Goodnight.

  • Great. Yes "hyperbolic journalism" must be called out. I couldn't agree more. Thanks mate.

  • Wouldn't you agree that if this research is eventually scaled to human subjects and the results are the same, which happens often enough though not always, then that constitutes a potential avenue for therapeutic intervention?

    Yes, I certainly agree. My skepticism is, I hope, the healthy skepticism of a scientist. The finding is certainly promising enough to be taken further, and I hope that it is.

    But wouldn't you agree any potential therapeutic intervention that removes the crippling depression, anxiety and OCD is worth knowing about?

    Yes, again. Like you, I don't seek a cure for autism, but I'd love to know that I will never suffer from acute depression ever again. I wouldn't even be averse to some treatment for specific traits of my autism, especially if they were short-acting. Even a slight improvement in my executive functioning could make a huge difference to my life - not for the sake of being more "normal", but because it would help me to achieve things that I want to achieve and for which no other kind of support presents itself.

    I'm also just fascinated by science in general, as I have been since childhood; and since my diagnosis, the science of autism particularly.

    I must admit that, on reading back, my criticism of the article in my previous post does come across rather more strident than I meant it to. My bile gets up sometimes when I read hyperbolic journalism and I can't get at the sources; and I forget that the word skeptical has a far more negative connotation for many people than it does for me. My eagle-eye for the slightest hint of sensationalism gets the better of me sometimes and I forget to point out the promising parts! Blush

    This brings me to a point I made on another site just recently. In the absence of being able to read the source papers, those of us who wish to promote better scientific literacy and journalism are put into an awkward position, because it leaves us with little of the information we need to present good counter arguments to sensationalism and inaccuracies. All we can do is nit-pick at the ambiguous and hyperbolic language, generalise about how statistics can be biased, and mumble something about how many further stages of research will be needed before we should start to get really excited. If I had been able to read the paper and to understand at least some of it, my post might have been rather different (though not necessarily any better!)

    Best wishes.

  • Hi Trogluddite,

    Thanks for your response.

    Crikey, I ought to be more careful in what I post and how I present it. Many thanks.

    Just to add a bit more - you are absolutely right in saying "... I'm especially skeptical about such sensationalist reports based on animal studies. The mice might be showing behaviours that look autistic, but that doesn't mean that their psychological reason for doing so is the same ..."

    This research seems to have found a protein that affects expression of homologous genes implicated in human autism in animal models. Wouldn't you agree that if this research is eventually scaled to human subjects and the results are the same, which happens often enough though not always, then that constitutes a potential avenue for therapeutic intervention?

    Regarding the "behaviors" and "psychological" aspect, I am now comfortable with the social exclusion and couldn't care less about other people's reaction to my awkwardness. But wouldn't you agree any potential therapeutic intervention that removes the crippling depression, anxiety and OCD is worth knowing about?

    I think I get it now. I assumed a lot when I posted that link. Now I know I shouldn't have made assumptions. Who was it that said "assumption is the mother of all ***-ups"?Henceforth I'll be more circumspect.

    Thanks.

  • Hi Luke,

    Thanks for your response.

    Misinform people? What on earth makes you think that those here are naive or stupid to be misinformed? Anyone who clicked the link can see that was the heading in the New Atlas article, not a statement of fact. I posted the link solely for the purpose of information regarding where some of the current research is at for those who are interested. Nobody is compelling or asking you to go and buy the original paper. 

    As for what you term "speculation", I'm afraid that's how science develops. Everything that is fact today was once speculation - speculation not from inebriated or wanton imagination - but informed and carefully considered speculation stemming from statistically sound experimentation. And yes, it starts with animal models.

    Everyone knows what is scientific fact today started off as hypothesis, then theory. If it's the heading you find objectionable then my apologies. I figured anyone who read it would see that the heading comes from a "popular" science publication (kind of a tabloid) and not the original science journal, and so would instinctively know where to place or judge it. Maybe I figured wrongly.

    Thanks for making me realize that.

  • I think you're quite right to be skeptical, Luke. The link is only in mouse models, and it's not clear how many of those genes are also only known from animal models. There may be something useful to learn if these things can be demonstrated in humans, but with a condition that is defined by cognitive, perceptual and social traits, I'm especially skeptical about such sensationalist reports based on animal studies. The mice might be showing behaviours that look autistic, but that doesn't mean that their psychological reason for doing so is the same.

    At the same time, I don't have a problem with people posting these links, if only for my own scientific curiosity. If people only go and read them on their own, then folks like us don't get the chance to present our counter-arguments. I think it's unreasonable to expect that everyone has the scientific training or resources to understand the original sources; so bringing them up on the forum to see what other people's informed opinions are seems like a good substitute.

    And yes - I hate those darned paywalls too! As a layman citizen, I just can't afford to pay to read the full papers, and I think it's important that at least a few of us are able to dig behind the hyperbole in the second hand reports.

  • After reading through the source materiel, I will admit I am not educated with the formulas they are using and I am not going to spend money on buying the full paper when it is speculation 'this protein emerges as a possible link between environmental factors that alter brain development and the genes that predispose to autism' Quoting Alberto Parras, the author of the study according to this link, (https://www.nature.com/articles/s41586-018-0423-5) Sorry if I seem hostile but you should really read and find source material before posting as to not misinform people.

    I am new to this forum so I will apologise if i have broken any rules or offended people.