If autism isn’t a single condition, why do we lump everyone who’s autistic into the same bucket? You’ve got the people that like trains and struggle with social cues and are sensitive to sound, and the people who broke their carer’s arm because their DVD boxset of Dexter’s Lab had a disc in the wrong place, and yes both are autistic, but it’s unhelpful because when someone says they’re autistic, you have no idea what that means.
I know there’s levels depending on how much care you need, but nobody’s going “I’m level 1 autistic” in daily conversation. It’s not like cancer where you can say “I have cancer” or “My dad died of cancer” and you can then say “It was prostate cancer”, because everyone knows what that means.
What about the different STAGES of cancer?
It used to be a binary “you have cancer or you don’t”
We’ve learned more and adjusted the spectrum of cancer severity. Why not the severity of autism (I know it’s not progressive, but it is a spectrum!)
If autism isn’t a single condition, why do we lump everyone who’s autistic into the same bucket?
Why do we talk about the autism spectrum like it’s a disease (or a bunch of diseases)? The only problem with autistic people is that they live in a society that is made for non-autistic people and it actively punishes them for being different. Kind of like with LGBT people, though I’d say a lot worse in this case. There’s nothing stopping people in the spectrum from functioning similarly or better than ‘regular’ people, other than the aforementioned society.
I’m with you… it won’t kill them and it’s not progressive. It’s not caused by a pathogen. It’s not a disease like polio or measles.
If a parent would rather have their child die, or no child at all, rather than an autistic child, they shouldn’t have children at all.
the people that like trains and struggle with social cues and are sensitive to sound
Well there goes the last shred of doubt I had that I’m high masking AuDHD.
It’s not new information, and it’s simple stereotypical stuff, but something about the way you phrased it made it hit different.
My kid is exactly like me, so learning how to deal with my issues is doubly valuable.
The only reason is that more is known about cancers than about the physiological basis of different psychological conditions. Psychology often has to work at the level of grouping symptoms because it’s difficult and takes a long time to discover any neurological and/or genetic causes behind them.
If autism isn’t a single condition, why do we lump everyone who’s autistic into the same bucket?
What categories could they use from the start to differentiate subconditions to avoid this? Experts couldn’t say if it was one disease or many, but they could tell they’re all closely related.
Investigating health is hard and only hindsight is 20/20.
Asperger’s used to be a categorisation, but they got rid of it because 1. The guy who came up with it was a Nazi and used it as a means of segregating those he didn’t intend to murder from those he did, and 2. the border between Autistic and Aspergers was pretty vague and whether you got the diagnosis was dependent on the culture of the clinic doing the diagnosing and not any objective criteria.
I dunno, it feels (obviously irrationally) a little bit insulting that there isn’t a categorisation, because by lumping everyone who previously had Asperger’s in with Autism, it doesn’t matter how well you mask, as soon as you mention you’re autistic, everyone thinks you’re one wrong word away from having a meltdown. Nobody sees levels, they see Autism, and what was formerly known as Asperger’s, where the latter are a bit weird, and the former are in need of serious care.
In other words, “Scientists Conclude Both Trump & RFK Jr. Are Utter A**holes For Believing Autism Is Caused By Tylenol, And You Should Be Voting For Democrats Instead”
It is likely like cancer, a cluster of conditions that resemble each other in the end. Every time I hear someone talk about “a cure for cancer” I say cancer is like car accidents. You could find a car upside down on the side of the road but there could be many causes for it, drunk driving, asleep at the wheel, mechanical failure, hit and run, etc.
But that’s not what politicians with absolutely no scientific or medical credentials are telling me.
Welcome to 2015. This is not new.
Sometimes it’s worth having new studies that add confirmation and detail to conclusions people have already reached. This article does seem to be reporting on new research.
Scientists concluded this in the 1990s, and then had to produce yet another study to unequivocally state it again after every time someone claimed to have found the “cause”.
This is part of the reason it was re-named ASD in the first place; it describes a set of atypical neurological development symptoms, not an identifiable state of being. Kind of like “cancer” describes an atypical cellular reproductive state, not a pathogen attacking your cells. Both can be caused by many different factors or combination of factors.
Of course, with ASD, it doesn’t even mean there’s anything particularly wrong most of the time; just atypical, resulting in a person whose thoughts are weighted differently than historically typical, with less interpretation of social cues and a greater ability to focus.
with less interpretation of social cues and a greater ability to focus.
“ability to focus” is more accurately described as “tendency to focus”. “ability to focus” connotes control over focus, which… from lived experience and what I’ve read, just isn’t generally true. Autistic inertia – the inability to defocus and then focus on a new context – is very real. Autism is a neurodevelopmental disorder not just because of an ignorance of social cues but because of how rigid, inflexible patterns of behavior often interfere with daily life.
Autist here:
Yeah, describing it as simply ‘greater’ or ‘lesser’ ability to control or maintain focus is… well, too simplistic.
I can, when it comes to task, hyperfocus on something like writing a piece of complex code / software, try to solve a real world engineering problem, do a comprehensive data analysis of some topic, write a chapter of a novel… I can hyperfocus on that for a solid day or week or month, and I have to actively remind myself to do things like eat and sleep regularly, because I know I tend to get obsessively focused on ‘the task’.
Shifting to another task, another very different … realm of thinking, or way of thinking, is often very jarring and exhausting.
But on the flip side, when socializing, people tend to say I am scatter brained, overwhelming, because I just flow all the way through my entire chain of concept associations to end up with a resulting… thing I am trying to say.
Sort of like how modern agentic AI has an ‘explain its thinking process’ mode.
Thats just the default for me, its all an explicit, conscious train of thought.
For me, summarizing that chain of thought into just a resultant ‘thing to say’ is the difficult part, that I get worse at the more mentally exhausted I am.
Also, I would say most, not all, but most autists… its not that we are inattentive to or ignorant of social cues.
Its that neurotypicals tend to process social cues mostly subconsciously, whereas autists tend to process social cues mostly consciously…
… and that most neurotypicals actually all have widely variable, inconsistent and imprecise standards by which they judge and perform social cues, but most of them are unaware of this, to the point that they are overly confident that everyone has the same rubric and understanding of social cues as they do, when this very obviously is not the case.
So, this confuses/overwhelms many/most autists, because they are presented with an inconsistent and variable ruleset, and then also told that this ruleset is consistent and invariable.
Neurotypicals will often get angry/rude/frustrated/overwhelmed when you try to break this down and explain this to them, presumably because they largely are not aware of / do not have this explicit, conscious thought process, and tend to interperet being asked to formulate it in consistent, precise detail just as a rude, unreasonable thing to ask for.
Basically, imo, NTs use a fuzzy, fast, less accurate, mostly unconscious heuristic to evaluate and perform social cues, and they tend to be very confident they are doing this correctly…
… whereas Autists tend to logically and consciously go through an entire evaluation system, which is more robust and thorough in that its basically a discrete series of probabilistic associations, but this is all much slower, much more ‘computationally costly’ to perform.
So, when an Autist is oversocialized, under too much pressure to perform socially, they can get overwhelmed and then either basically shutdown or freak out.
This also works, imo, to explain why Autists tend to take longer to initially learn socialization cues and concepts… because they are having to build a much more conscious, step by step evaluation model of all possible micro/macro expressions, tonal shifts, inflexions, vocab choices, all possibly relevant context, etc, and this can often be much more difficult to establish when Neurotypicals are nearly entirely unaware of or dismissive of their own inconsistencies and variability when it comes to those things.
This also works to explain why Autists are often seen as overly straightforward or blunt: They’re just telling you the result of their attempt to evaluate a social interaction.
And this also explains why almost no NT person I’ve ever met can accurately assess my emotional state / social interaction disposition, yet they almost all are very confident they can do so correctly and precisely.
EDIT
And I will here comment on the meta-irony of all of this, that … any scientist could just ask a ‘high-functioning’ autist to explain how this works, and they could… you know, trust what a person says about how their own thought processes work?
But nope, nope, still we are pathologized as if we are strange, alien, confused and confusing others, not valid sources of information as to how our own minds work, when our whole ‘problem’ is that we are way too aware of how our minds work.
Why do you think PTSD coincides with the later Autism diagnosis group more strongly than the early diagnosis group?
Because we have been saying shit like this our whole lives, and broadly, nobody cares and just makes up whatever explanation or understanding they prefer, which is almost always significantly innacurate/incomplete, so we tend to live lives of constantly being slandered and mocked, rarely being respected as human beings with full agency.
This seems similar to the phenomenon where antidepressants are only effective for about 15% of patients. The benefit is large for those who benefit. For the rest, they’re no better than placebo, suggesting the drugs treat one of several causes for the syndrome known as depression.
Yeah but we’re not allowed to talk about how that 85% has been prescribed stuff that doesn’t help them, very often has negative, deleterious, harmful mental and physical sideeffects, oh and also often cause dependency/addiction.
Because then when you look at it that way, that would mean basically all currently active, prescribing pscyhiatrists would be open to malpractice lawsuits, and/or drugmakers would be open to gigantic class action lawsuits.
You know, like with opioid pain killers?
But uh nope, nope, that can’t be allowed to be considered, so … just don’t talk about it.
Doctors are generally not subject to malpractice suits for engaging in what was believed to be the best practice at the time. That’s how it should be, because that’s how science works.
Knowing that antidepressants don’t work for most people presents a difficult problem though. There is no test to determine whether they will work other than trying them for months. Never trying them would be unethical because they can be life saving and life changing for those who respond. Using them indiscriminately is also unethical because they have side effects and withdrawal symptoms.
I would at least appreciate it if doctors were permitted to jump ahead to the actually effective stuff (i.e. ketamine, psilocybin therapy) without having to force the patient through the gauntlet of ineffective drugs first. I believe it’s insurance companies to blame for that one. They would rather not pay out for quarterly/yearly/one time ketamine treatments that actually work, because that means their money isn’t flowing in the preferred direction. I guess they prefer us to die buying tainted drugs off the street.
Doctors are generally not subject to malpractice suits for engaging in what was believed to be the best practice at the time. That’s how it should be, because that’s how science works.
We electroshocked and then lobotomized the patient, they’re basically a 4 year old now mentally, but thats all fine because the science at the time said so.
We smoked in our office consults with pregnant women, but thats all fine because science said so at the time.
… Uh, nah, no, at least from a morality perspective.
So, so much tangible quantifiable financial damage done to so many people by sideffects and then meds for those sideffects…
Legally, yeah, maybe not malpractice if … thats the actual legal standard, maybe it falls on the drug mfgrs legally, but uh what ever happened to harm reduction, is it now maybe time to have some kind of actual reckoning with this as a field/industry?
To me, at this point, in the US, psychiatrists are basically very snobby and arrogant drug salesmen, who will confidently tell you they know what they’re doing and then oops turns out they don’t.
Your second paragraph illustrates this perfectly.
Don’t even have a method of assessing how any of this should work.
Just no clue, none, might as well be popping random pills at a rave, nearly the same epistemic level of ‘will this do what the person i got it from said it will’, difference being stuff from a psych is very unlikely to be cut.
This is is mad scientist level shit.
15% chance it works, 85% chance it doesn’t, you’re all experimental test subjects actually who were not informed of that.
I dunno about you but I don’t tend to trust people who tell me to do something and tell me its all very well understood, and then oh haha, no it isn’t.
I had MDD for a while and my psychs ran me through an ever increasing gauntlet of drugs for it that justade everything worse and worse, to the point I now have them all listed as things I am allergic to, turns out I just needed less stress and pressurr in my life and to get away from my abusive family.
This should be a nationwide scandal.
https://www.cdc.gov/nchs/products/databriefs/db528.htm
Roughly 1 in 10 people in the US are on anti-depressants, … and for 85% of them, that can basically only be neutral to harmful.
Maybe revoke all these things as approved treatments and move them back to the experimental trials phase, stop using about 30 million people as test subjects, and also lying about that?
None of those things are “fine”. They just shouldn’t result in penalties for individual doctors who were following established best practices.
The problem should be addressed at institutional and structural levels. Drug companies shouldn’t be allowed to throw away 30 studies with inconclusive results and get approved based only on the two with positive results. Drugs that work by inducing a structural change like SSRIs shouldn’t be approved for indefinite use, and if that evidence is found after their initial approval, the approval should be amended. Drug companies should never have been allowed to advertise that depression is a “chemical imbalance in the brain” which is corrected by their drugs when there was never evidence for that beyond the drugs having an effect.
Sure, ok, yeah, we need systemic change at a fundamental level, yep, totally agreed.
Anyway, do any psychiatrists have any morals?
Why do we even have medical ethicists when basically the entire system is fundamentally broken, the extent and details of this are well known to experts, but they just content themselves with ‘doing their best’, and require layman to investigate how full of shit all of this is?
How can you work in this field and sleep soundly at night at the same time?
Sorry, right, like, I’m an anarchist, the ‘point’ of a system is what it actually does, not what it claims to do or aspires to do.
Road to hell, good intentions, all that.
This is all provably ludicrous, and imo, the field should be on fire, revolting in droves at how fucked up this situation is and how they won’t participate in a massively harmful and morally dubious system.
Otherwise, I guess the Hippocratic Oath isn’t a thing for psychiatrists, this is just their day job.
Been saying this for years, feels vindicating. I’m ADD and I’ve been wondering about the possibility of autism, every time I try to look into the symptoms it seems wildly varied, poorly defined and vastly misunderstood. At least with ADHD/ADD you can blame the blood ghosts and do a cocaine about it.
Technically, we do a meth about it! Cocaine does almost nothing for me since I’ve received a doctor-ordered double dose of meth daily since my diagnosis at 17. Damn the blood ghosts for cockblocking all the potential cocaine connections I’ve missed out on!
The only thing “technically meth” about Ritalin is that it has the word “methyl” in it. I know you are making a lighthearted joke but it’s still really harmful because a majority of the population still literally believe that the doctor wants to give their kid meth and then withhold critical treatment that people need.
Ritalin isn’t methamphetamine, but Desoxyn is, and that’s also used for ADHD.
It is extremely, extremely, extremely rare for someone to be prescribed Desoxyn in the modern age. Nobody you know with ADHD is taking that.
And with that, if possible at all, there is no single fix either.
Get fucked by an umbrella, RFK
Then go ask your boss if he can close it for you.
The analysis, published last week in the journal Nature, showed that children diagnosed before the age of 6 were more likely to have behavioral difficulties—such as problems with social interaction—from an early age. In contrast, those diagnosed after the age of 10 were more likely to experience social and behavioral difficulties during adolescence.
So if you have behavioral problems early, you’re more likely to get diagnosed early, when you have behavioral difficulties later, you’re more likely to get diagnosed later.
The phrasing here seems to want to imply a reverse causal relationship, but I’m pretty sure the conclusion here is that kids don’t get tested for autism before they display autism-like behaviour.
As for the actual causes of autism, I recently read that the genetic and family is about 60-90% of the causes, making it by far the biggest cause, and not environmental factors like RFK likes to suggest. But it’s not a single gene, it might be other stuff, and it’s not an on/off thing but a big pile of factors that add up.
But there are also environmental factors that do have an impact. Not vaccines or Tylenol, but some kinds of pesticides, for example. Maybe that’s something RFK could focus on.
Its more than a tautology, you are oversimplifying.
Or, well, as always with writings on or about science aimed at a general audience… the writers are oversimplifying, always read the paper.
https://www.nature.com/articles/s41586-025-09542-6
What they are describing is that those diagnosed early have a different behavioral psychological profile, different set of observed behaviors, than those diagnosed later.
They are saying that ASD has roughly two different sets of distinguishable behavioral profiles, and one of those sets is so obvious it tends to get diagnosed early, and another set is less obvious such that it tends to get diagnosed later.
While they seem hesitant to use the terminology of saying ‘there may be two fairly distinct subtypes of autism’, likely because they want to emphasize that more research needs to be done, they do not want to lead to people making rash and non nuanced conclusions… that basically is what they are saying, that there appear to be distinct genetic profiles that produce observably different ‘kinds’ of autism.
They ran a battery of statstical meta analysis on different genomes and behavioral profiles of Autists, and this chart I think summarizes it best:
(Those bars are 95% confidence intervals)
Two, fairly distinct behavioral/neurodevelopmental/phenotypical profiles, that also go along with two, fairly distinct underlying genomic profiles.
That is much clearer than the article puts it. Thank you.
Thank you for appreciating the summary! =D
Here’s the source instead of a paywalled news article https://www.cam.ac.uk/research/news/study-reveals-genetic-and-developmental-differences-in-people-with-earlier-versus-later-autism
And here is just the full open access paper:
Scientists from Cambridge’s Department of Psychiatry found that children diagnosed as autistic earlier in life (typically before six years old) were more likely to show behavioural difficulties from early childhood, such as problems with social interaction.
However, those diagnosed with autism later on in life (in late childhood or beyond) were more likely to experience social and behavioural difficulties during adolescence.
I assume that the paper itself frames this a little differently, because what this is saying is trust there’s a correlation between when traits become noticeable and when people get a diagnosis. Which is what you’d expect. You don’t tend to diagnose people who don’t exhibit the traits required for diagnosis.
But chief US stientists have discovered that it’s all caused by Tylenol!
If you’re smart, you’ll buy Tylenol stock and bank on the rebound.
That’s not true. RFK Jr recently said it was from circumcisions.
If you take tylonol for the soreness after being circumcised you are 100% going to catch the autism.
Great so now I’ve been downing Tylenol for no reason?
FUCK!
I heard that being liberal makes you autistic.
It’s multiple conditions we group together naively based on surface level symptoms. Same for many disorders.
The type that comes with gender and sexual fluidity, bendyness, ADHD = rccx caused ASD.
Then that will have multiple subtypes based on mutation combination within the rccx module.
(The RCCX module would’ve been excluded from the genetic analysis the report this article is based on - due to its complexity).
Severe/non-verbal ASD is more likely completely unrelated and caused by dendritic abnormalities (reduced or excessive branching, immature spines, disrupted morphology, etc)
You seem to have a more in depth grasp of the precise genetics involved here than I do, what would your opinion be of Dr. Frye’s concept of “Cerebral Folate Disorder” that I mention in another comment?
Here’s a paper from him and his team, he has many though:
https://pmc.ncbi.nlm.nih.gov/articles/PMC5794882/
As best I can tell, he is focused on the non-syndromic, non-verbal, uh, what this recent paper OP is about seems to categorize as ‘early diagnosis autism’.
He’s got a cluster of specific mutations that produce an evidenced, differing neurochemistry in the brain, and apparently a potential treatment for that ‘subypr/component’ as well?
I… don’t agree with his general description of autism as basically only the kind that makes you developmentally delayed, but, if you can get past that… do you think he may be onto something as far as that being an distinct ‘type’ of autism?
Also, apologies if I am using some terms incorrectly or innacurately, I am not a neuroscientist.
Oh me either don’t worry - CS with a personal interest in genetics/RCCX.
At a (quick) skim, RCCX can set the terrain for Frye’s “cerebral folate disorder” pattern. The block on 6p21 carries C4A/C4B for complement, CYP21A2 for steroid 21-hydroxylase, and TNXB for tenascin-X, with tight linkage and lots of copy-number shuffling.
How this maps to the folate-receptor autoantibody story and folinic response:
- C4 structure and dosage can raise baseline autoantibody risk. Higher autoantibody risk makes FRAA more likely.
- TNXB variants can track with hypermobility, dysautonomia, and GI dysmotility. Weaker barriers and altered motility increase exposure to food and microbe antigens, which raises chances of receptor-directed autoimmunity like FRAA.
- CYP21A2 alleles can shift cortisol and androgen tone. Stress-hormone tone sets immune thresholds and brain energy demand, which makes folate transport failure hit harder.
- Put together, you get a terrain with more autoimmunity, more redox strain, and more antigen exposure. That combo can yield low CSF folate with normal serum, especially when FRAA blocks FR-α at the choroid plexus. High-dose folinic acid can bypass via the reduced folate carrier and support one-carbon flux.
Likely RCCX culprits to look at: C4 copy number and long vs short C4 with HERV-K(C4), TNXB loss or TNXB–CYP21A2 hybrid alleles, and common CYP21A2 deficiency variants or pseudogene conversions. (And hope you get lucky - much of RCCX still escapes us) These do not prove causation for CFD, yet they explain why this subtype clusters and why folinic acid helps the FRAA-positive group.
So I’d probably say this (might) be a non-verbal type of ASD caused by RCCX, unlike the type caused by dendritic abnormalities.
… You are much more well versed in the specifics of this than I am, good lord.
Either than or you’re copy pasting an AI response, I have 0 ability to tell, as I … yeah, not even close to an expert on this.
So basically, what you’re saying is… this Folate hypothesis of Frye… seems plausible and could mesh with RCCX… which… are letters that have a meaning I do not know, lol.
I am guessing… recombinant is in there somewhere?
I apparently need an ELI5 for this.
RCCX is apparently different from dendritic abnormalities, which… I assume means something like literally malformed neuron dendrites, maybe kind of like how sickle cell blood cells are malformed compared to non sickle cell?
???
No this is the result of about 7 years of on and off hyperfocus and reading a couple k studies before decent LLMs were a thing. Some snippets lifted from my previous comments for convenience.
RCCX = a four-gene block that can tweak immunity, hormones, connective tissue, and gut nerves. As well as making carriers more prone to random epigenetic mutations in response to the environment. That terrain can make folate-receptor antibodies more likely and more harmful. Frye’s “cerebral folate disorder” fits that picture, and folinic acid gives a realistic bypass for the subgroup that tests positive for those antibodies.
The block acts like a four-piece Lego unit. Some people carry extra copies. Some people carry fewer. The pieces can swap bits with nearby look-alike segments. That setup can shift four body systems: immune tone (C4), stress hormones (CYP21A2), connective tissue and joints (TNXB), and signal control in the nucleus (RP/STK19). The gut and autonomic nerves often feel those shifts.
It’s a chimeric region that spits out mutations in response to the environment and is how our genome evolves. Pretty cool right? The stress diathesis in the stress diathesis model of disease.
It is the most complex gene cluster in our genome, and has avoided detection for this very reason. It was recently linked by NIH to the sex biases in autoimmune conditions.
https://neurosciencenews.com/genetics-sex-disease-16348/amp/
5 years ago now actually 😳 but I’ve been waiting on mainstream sequencing and analysis techniques to catch up. Rccx also has connections to hypermobility via tnxb; known cyp21a2 mutations cause CAH and intersex disorders, milder ones are linked to gender and sexual fluidity (hence why rccx autists are more likely to be trans, although not all - some may even appear hyper-masculine due to the danger wiring).
Dendrites are the little branches on neurons. A dendrite problem means a different class of issue inside the brain’s wiring. RCCX lives in the immune-hormone-matrix space. It can shape brain function through immune and metabolic routes, not through a built-in shape flaw in neurons.
some dumpage:
MHC class III is located on chromosome 6 (6p21.3) in humans. It covers 700 kb and contains 61 genes. making it the most gene-dense region of the human genome. The functions of many genes are yet unknown.
CYP21A2 is closely adjacent in tandem with three other gene(serine/threonine kinase RP, complement C4, and tenascin TNX), forming a genetic module termed RCCX (RP/STK19 - C4 - CYP21* - TNX*). The four-gene module is the most complex gene cluster in the human genome. Which includes overlapping genes and genes within genes . In addition, containing high density retroelements such as human endogenous retrovirus (HERV-K).
The RCCX region consists of chimeric genes which are thought to be critical for driving genome evolution. The RCCX module shows a high similarity between the functional genes (RP1, CYP21A2, and TNXB) and the corresponding pseudogenes (RP2, CYP21A1P, and TNXA), leading to gene conversions and gene deletions due to homologous recombination, which inactivate the functional genes. These genes make multiple copies of themselves (called copy number variations). Behaving as one unit, instead of as four separate genes - deleted and duplicated together. RCCX is the only place in the human genome where genes travel together in this way.
MECHANISM FOR GENE DELETIONS AND DISEASE ASSOCIATIONS (the RCCX Module) (1999) The burdens are the accompanying genetic or autoimmune diseases such as CAH, systemic lupus erythematosus, and possibly EDS, caused by unequal crossovers and incorporations of deleterious mutations in the constituents of the RCCX.
STK19
(previously RP1) “The relationship with disease for STK19 are being gradually revealed” Responsible for gene expression and DNA repair, as part of a ‘RNA Metabolism Surveillance Quartet’, Established links with melanoma, skin pigmentation, metabolic syndrome and inflammation Correlated to Sjogren Syndrome, Type 1 diabetes, schizophrenia
C4
Work led by researchers at Harvard Medical School and MIT provides a clear genetic explanation behind the sex bias observed in some diseases. The team’s findings, reported May 11, 2020 in Nature, suggest that greater abundance of an immune-related protein C4 in men protects against lupus and Sjögren’s but heightens vulnerability to schizophrenia. Responsible for immune-clearance Established links with ASD, Schizophrenia, Lupus, Sjögren’s Correlated to CSF/ME via HERV-K over-expression in one preliminary dataset.
The geneticists who linked C4 with schizophrenia called it the mother of all mapping problems in a recent webinar. SNP analysis, WES, WGS won’t get at these mutations without a lot more work due to the massive amount of variation and complex and long range disequilibrium changes. They had to use about 5 different state of the art processes and what they found is highly associated with brain plasticity.
C4 controls developmentally relevant and experience-activated dendritic pruning (perhaps the Sensory-Processing-Sensitivity brain becoming more and more associated with autonomic dysregulation circuits associated with conditioned fear response. This may provide some explanation of why LDN could be helpful in both PTSD and chronic illness as C4 controls phagocytosis of synapses by activated microglia and LDN may decrease microglial activation.
CYP21A2
The common CYP21A2 variants presumably exert the same effect on `hormone levels in the healthy and disease-affected populations. Therefore, they may contribute to complex diseases” Responsible for variations in hormone levels, with it’s primary function being the encoding of 21-hydroxylase, deficiency of which causes defective conversion of adrenal precursors to cortisol and, in some cases, to aldosterone
Established links with Classic & Non-Classic Congenital Adrenal Hyperplasia Correlated to Addisons Disease, most mental health issues, higher rates of sexual and gender variance, and psychological vulnerability to stress
CYP21A2 travels in tandem with a psuedogene and the high degree of sequence similarity between them indicates that these two genes are evolving in tandem through intergenic exchange of DNA.
CYP21A2 mutations are also associated with elevated levels of Corticotropin releasing hormone. The combination of corticotropin-releasing hormone (CRH), secreted under stress, together with environmental stimuli could be major contributors to the pathogenesis of immunological disease - as the diathesis in the stress diathesis model of disease.
TNXB
Encodes an extracellular matrix protein.
Established Links : Classical-like Ehlers-Danlos Syndrome (EDS), Vesicoureteral Reflux Correlated to Hypermobile EDS, Hypermobility (Joint-Hypermobiltiy Syndrome, Hypermobility Spectrum Disorder (HSD), juvenile RA.
Holy cow.
I am insanely impressed by your level of knowledge here.
I am going to have to star this and attempt to digest this in chunks, thank you very much for all this info!
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