Protein Mutations Linked To Autism
Some new research indicates that a possible cause of autism.
Scientists have discovered how mutations in two key proteins may lead to autism.
They have shown one protein increases the excitability of nerve cells, while the other inhibits cell activity.
The University of Texas team found that in normal circumstances the proteins balance each other out.
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The findings back the theory that autism involves an imbalance between excitatory and inhibitory connections between nerve cells.
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The proteins – neuroligin-1 and neuroligin-2 – create a physical bridge at the junction – or synapse – of nerve cells, enabling them to make connections with others.
In studies on rats the researchers showed that raising levels of both proteins in nerve cells led to the creation of extra synapses.
Neuroligin-1 was associated with excitatory connections and neuroligin-2 with inhibitory connections.
When they introduced a mutant form of neuroligin-1 thought to be carried by some people with autism the number of synapses fell dramatically – and the cells became significantly less excitable.
Infants are born with far more synapses than survive to adulthood. Active synapses proliferate during development, but inactive synapses are culled.
The latest research suggests that carrying a mutant form of neuroligin-1 may depress the number of synapses that make it into adulthood.
This could hamper the ability of nerve cells to make the usual connections, and lead to the deficits seen in people with autism.
It affects the way a person communicates and interacts with other people.
In other words, all those studies showing that there is no link between autism and vaccines…well that was probably true, and the actual culprit is the genetics of the parents.
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Yeah, as a parent I can understand the need to know why a child has autism or any other illness and what caused it. It’s a shame though that this is being dragged through the courts when doctors and scientists have said for some time there is no link to vaccines.
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I’ll buy this as a cause of autism. I’m skeptical of it being the cause of autism.
Two reasons:
First, autism is pretty clearly a spectrum of similar disorders, rather than a single disorder. This suggests a variety of mechanisms interfering with closely related brain functions.
Second, the mechanism described here seems not selective enough to explain high-functioning autistics. An overall failure of synapse development sounds awfully pervasive, enough that I’d expect overall decrease in brain function, not just the social skills that are inhibited in autistics. Now, it’s the case that many autistics are also mentally retarded, and this mechanism could explain this subset of cases. But not all cases.
Oh, and I’m thoroughly convinced that vaccines are not among the mechanisms behind autism.
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The fact that these 2 protein mutations may lead to autism, doesn’t exclude the possibility that these protein mutations may have been caused by something other than genetics.
-doctors and scientists have said for some time there is no link to vaccines- markm
Many years ago doctors and scientists claimed bad parenting was the cause of autism. Shows you that doctors and scientists are not always right and 100% of them never agree.
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Kent: Your comment suggests that gene switches are simply binary, i.e. on/off. Some may be, some may not. The extent of cells affected by a damaged gene could well describe differences in the levels of autism.
Too, ‘autism’ has been far more broadly defines over the past decade than it used to be. I suspect–without proof–than things other than ‘pure autism’, whatever that might be, are now included in the broader definition.
D. Ray B: Yes, that’s true. And some 15 years ago or so, researchers were finding that something was going wrong in fetal development around week 11 of gestation that was leading to autism.
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I am a parent with a child diagnosed with autism.
I find the various research into its causes very interesting. I don’t have a deep desire to find someone or even something to blame.
I have long believed it is somewhere in the genes, and haven’t much bought into any of the autism/vaccine link beliefs.
I do agree a lot with Kent’s post in that this doesn’t seem to explain the entire spectrum-so I am not sure you could label it the “sole” cause.
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Too, ‘autism’ has been far more broadly defines over the past decade than it used to be. I suspect–without proof–than things other than ‘pure autism’, whatever that might be, are now included in the broader definition.
I am not sure I agree. I don’t think the broadening of the autism spectrum is neccessarily wrong, and I also think the neurological disorders that aren’t autism are closely linked genetically with those genes that cause autism.
If you look at most families where one child has an autism diagnosis, you find clusters of other children who are either also on the spectrum or who have some other neurological disorder.
My guess is that autism and the various other neurological disorders fall on a series of genes, and just how those genes fire, misfire, work together may determine whether a child has Kanner’s autism, Asperger’s, some otehr autistic like disorder or another neurological disorder.
Either way, autism is on the rise, even among Kanner’s (the more classic diagnosis) finding out why is what interests me.
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–And some 15 years ago or so, researchers were finding that something was going wrong in fetal development around week 11 of gestation that was leading to autism.– John Burgess
I would like to read some of this research if you have any more information concerning it.
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[...] Originally posted on wickeddoll.vox.comLeave a comment je_regret_riens, posting in asperger @ 11:45 am: Protein Mutations Linked To Autism http://www.outsidethebeltway.com/archives/2007/06/protein_mutations_linked_to_autism/Scientists have discovered how mutations in two key proteins may lead to autism.Current Music: Final Fantasy – Treasure Tags: articles, genetics, je_regret_riensLeave a comment grr_rob @ 08:36 am: There are workmen outside the door, pulling apart the fascia of the balcony and the walkway. It is loud. It is distressing. It feels and sounds like they’re pulling apart the walls of the bedroom. Do not want.I’m moving slow and cranky, and keep waking up far before the alarm clock. That’s Solstice for ya — all the sunshine, all of the time.(Oh, good. Now they’re using A Really Big Drill.)The cat broke my ribs. Okay, maybe not broke — I didn’t go to the ER, because, really… why? “Hello! My 20 pound cat jumped on me, and broke my ribs, I think!” is not how I want to spend that money. But they hurt like they haven’t hurt since I played rugby, and that’s a special kind of hurt. Note: Enell bras? Work as a rib binder when a 20 pound cat kind of breaks one’s ribs.I am so totally going to hurry up and leave, now. The Big Hammer has joined Really Big Drill in torturing the building. Poor Stupendous Girl Friend has been awakened, too. I at least get to flee to the Counseling Center until 7 tonight. She’s stuck, here. At least there are new-ish Netflix in the house. (“House” season one, in fact.)Which reminds me, I have to call in a refill.Current Location: the couchCurrent Mood: crankyCurrent Music: the loud workmen with louder tools Tags: i hurt myself in interesting ways, loud workmen with louder tools, morning, solsticeLeave a comment myindigodreams @ 11:40 am: Caped Crusader I was part of a craft swap. I sent out 2 sets of finger puppets and Miss Dashwood/MJs. In return I received – Fun Soaps (no pix yet), Play Silks (pix didn’t show them so will try again) and a cape. Below are pix of Ryne sportin’ his cape. She did such a wonderful job. Up until this one, she’d only done girly princess styles. She definitely captured my little man’s imagination.( Pictures )Current Mood: impressed Tags: pix, ryneLeave a comment jaimie2i, posting in debunkingwhite @ 11:40 am: Alcohol banned in Aborigine areas10 comments | Leave a comment printedfaces @ 11:34 am: silly quiz I stole this from Jen (but which Jen? I know so many!)( yawn )real post tomorrowCurrent Music: Here Come The Warm Jets – Brian Eno Leave a comment mettalchikk, posting in pinkhair @ 10:38 am: re-pinked … plus! Little sister Annie (hair-colorist extraordinairre) did our hair yesterday. I mixed up a bunch of colors and told her to go to town! Don’t ask what all of the colors are and where they’re placed. But I can tell you we used (among others and mixed combinations) (SFX) Atomic pink, Cupcake pink, Pimpkin purple, Cherry bomb and some old punky colours stuff we had lying around! She’s a genius! ( ( I cut because I care! ) )Current Mood: bouncy 2 comments | Leave a comment myindigodreams @ 11:36 am: SP10 – Revealed! My SP’s name is Amy. And this was her first Secret Pal too. She was great. I just love everything she sent me. Here are pictures from my package from her. Somehow, the soaps photo didn’t come out.( Pictures )Current Mood: grateful Tags: fiber, pix, sp10Leave a comment duckydoo @ 11:22 am: There is a need to be heard…. Our natural response when we hear about a sexual assault is to turn away, shut down or even deny that it did or could happen. But it does happen. One thing that we can do as humans is simply listen. If some you know has been sexually assaulted, let them know they can talk to you about it. You do not have to fix their problems or give them solutions to their issues. Just by simply listening and accepting their truth you are an active part of their healing. It really is that easy. By listening to them you express that they are not alone. That is enough.For this reason I love and respect what these brave people are doing…The Rape Declaration Forum Tune in to 99.5 FM in New York City and streaming live on web and archived at http://www.wbai.orgThursday, June 28 10 -11 p.m. 2007Hosts: Rebecca Myles and Jay GrayceEngineers: Tony Ryans and T-Dub (alternating)After a long hiatus, unfortunately we are back. The news isn’t getting better. Reports out of Iraq of the military covering up rape in its ranks, stories in New York, the violence continues worldwide. The Duke lacrosse team may be been exonerated and Micheal Nifong facing disbarment and resigning but what about the rape victim who was called a Liar on the front page of the New York Post? What about the four men whose DNA was shown on or in the accuser?For newcomers the Rape Declaration Forum is a call-in radio live broadcast, which allows the abused to freely relate their stories to a wide and diverse audience over the airwaves in the New York region, and globally on the internet. It is aired monthly on 99.5 fm WBAI. Each broadcast typically starts with a pre-taped interview with an abused person who has free space to explain, in depth, the trauma and the results and lessons learned, of their abuse. This is followed by anyone who calls in to add or respond to the issues raised during the set up piece. The number to call on the night is 212-209-2900. The show was conceived by Donald Vance and is co-hosted by Jaye Grayce and Rebecca Myles and engineered by Tony Ryan and T-Dub.For the show this month the New York Alliance Against Sexual Assault released two surveys on sexual assault services in the city and rape victims’ experiences of them. Debi Fry the research director from NYCAASA will join us in the studio to talk about the surveys, Cheryl Wheeler a rape victim will join us on the ‘phone to share with us her experience of those services and talk about her rape, and we have invited a representative from NYPD’s Sexual Violence Unit.So please join us, tune in, call in.Leave a comment myindigodreams @ 11:32 am: MDC May Yarn Ball ( Pictures )Current Mood: amused Tags: fiber, pixLeave a comment myindigodreams @ 11:27 am: FOs & UFOs ( Pictures )Current Mood: accomplished Tags: fiber, pix2 comments | Leave a comment myindigodreams @ 11:20 am: Summer = Baseball ( Pictures )Tags: baseball, pix1 comment | Leave a comment dorothymonkey @ 11:16 am: why I can’t be left alone for long So, we put together the new bookshelf on Tuesday night, which provided a good opportunity to reorganize our non-fiction books. So, after work yesterday I started on that.But, because I seriously have something wrong with me, I decided to organize them by Library of Congress classifications. This took a while. And, because we don’t have all that many non-fiction books (one bookshelf full), Cosmo’s Bedside Quiz Book is right next to The Feminine Mystique.So, as a personal note from me to feminism: sorry!Current Music: detroit cobras – you’ll never change Tags: books2 comments | Leave a comment fruit_blender, posting in eyeshadowsluts @ 11:12 am: Quick Question Hey, I have a question….For a beginner in the wonderful world of eye shadow, would it be wise to get a no brand eye shadow kit that has a lot of colors to practice shading, blending, etc, or would you rather suggest to buy two or three high quality shadows? My logic is the cheap stuff I wouldnt feel so bad about messing up and washing it off, but I also understand that it doesn’t have all the properties of high quality make up, so its prone to messing up more often… I don’t really know which to do. Thanks for the input. Also, sorry for an all text post =(Current Mood: confusedCurrent Music: Faudel – Mon Pays 7 comments | Leave a comment kallistos, posting in academicpagans @ 11:08 am: Proposed new journal There has been a proposal for a journal for scholarly or well researched articles relating to Religio Romana, Hellenismos, Romano-Celtic, Celtic-Recon, Germanic-Recon, and Kemetic belief systems.I have posted a poll here to guage interest, and also to seek advice and comments.zoe_me suggested I post a link here.Leave a comment myindigodreams @ 11:12 am: What’s New? I know I’ve been quiet. I have been sorta unwell for a while. Nothing major just a lot of little things – mainly sinuses and my old ulcer rearing it’s head. I haven’t missed this much work in forever. I feel like I’m at the doctor’s every other day between annual check ups (getting a 2nd pair of glasses just for computer work and knitting) and urgent care crapola. But through all of this, I see that my team of doctors is really coming together. I just need to find a rheumatologist that doesn’t drive me crazy and even better doesn’t put his/her nose up at alternative therapies like massage, reiki and my naturopath.Not a lot of knitting going on, more reading honestly. Mainly little projects -finished all my finger puppets for trade. They came out soooooo cute. Now I just need to make the dozens my son wants for himself. He keeps coming up with new ideas and I am willing to give them a whirl. I can make one from finish to end (sewing on ears, nose, etc) in 3 hours, that’s less than 4 episodes on Lost or CSI on DVD. I promise to get pictures up, just haven’t gotten around to organizing them. Been avoiding the computer at home. I am also playing with a tube sock pattern – adult to infant. It looks like it will have a couple toe and heel options (maybe even toe up and cuff down) when I am done with it. The pattern will get posted once it is a bit more than scribbled notes and been tested on different types of yarn. Started a pair in wool-ease for Ryne last night, for slipper purposes.Happy Summer! Here is the first part of Song of Myself by Walt Whitman to celebrate.1 I celebrate myself, and sing myself, And what I assume you shall assume, For every atom belonging to me as good belongs to you. I loafe and invite my soul, I lean and loafe at my ease observing a spear of summer grass. My tongue, every atom of my blood, form’d from this soil, this air, Born here of parents born here from parents the same, and their parents the same, I, now thirty-seven years old in perfect health begin, Hoping to cease not till death. Creeds and schools in abeyance, Retiring back a while sufficed at what they are, but never forgotten, I harbor for good or bad, I permit to speak at every hazard, Nature without check with original energy.Current Mood: tired Tags: stuff1 comment | Leave a comment haptotrope, posting in fatshionista @ 09:55 am: Update to Airline Review! omg! and “White Queen” costume photos Hey, Not to commandeer this community with my love for Midwest Airlines… but I got an email from a Fatshionista Employee of Midwest (FEM! :-), who wished to remain anonymous and she had these wonderful additions to my overall glee in this postIn addition to all that (cookies! extra room! first class in the back!)… did you know:-They will never charge you for two seats, and will always treat you with respect?-That their uniforms go up to a SIZE 30? and if that doesn’t fit they will *MAKE* a uniform to fit?-They hire a wide variety of flight attendants.( original message behind the cut )( My White Queen Outfit that I made in an afternoon )Tags: d.i.y., photos, raves6 comments | Leave a comment bbcnewsworld @ 02:29 pm: New Orleans ‘still a flood risk’ [...]
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I’m curious as to why you left out this quote
“Lead researcher Dr Ege Kavalali said: “Mutations in these proteins have recently been linked to certain varieties of autism.”
Certain varieties of autism, he didn’t say ALL varieties. And this was the lead researcher on the project. So I don’t think this definitely rules out the idea that vaccines may be responsible for SOME forms of autism.
I think we will eventually discover, as others have stated above, that autism is a blanket term for a variety of illnesses with similar symptoms.
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The vaccine theory has been pretty well disproven by statistical studies. Further more, this mutation doesn’t seem to be dependent on the specific genetics of the parents, and as far as I know autism doesn’t show any strong correlation to inheritance.
They’re called Autism Spectrum Disorders (ASD) of which Autism is only one specific diagnosis. Asperger’s is another. My own son has been classified as PDD-NOS (Pervasive Developmental Disorder – Not otherwise Specified) meaning he fits in the overall spectrum, but not any one disorder specifically.
I agree, such a significant and (as far as the article mentions) non-specific decline in synapse development doesn’t seem like it can account for the very significant but specific problems that many autistic people exhibit. Even outside of high-functioning, many in the spectrum have no speaking difficulty and very few have metal retardation (in fact, most spectrum children show elevated intelligence).
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[...] Posted at 08:40 am | Link | Leave a comment | 3 comments | Add to Memories | Tell a Friend je_regret_riens in aspergerProtein Mutations Linked To Autism music: Final Fantasy – Treasure http://www.outsidethebeltway.com/archives/2007/06/protein_mutations_linked_to_autism/Scientists have discovered how mutations in two key proteins may lead to autism.Tags: articles, genetics, je_regret_riens [...]
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There is strong evidence of an inherited component to autism, based on family and twin studies. However, the inheritance is not the simple Mendelian single-gene inheritance. Only fragile-X syndrome, which is sometimes regarded as a form of autism, is anywhere near to being that clear cut.
My sister’s first son is severely autistic. Genetic counsellors told them there was a 10% chance their second child would be autistic. They elected to take the chance, and the child appeared normal. By the time he was diagnosed with high-functioning autism, they had had a third child, who is somewhere between the first two in severity.
In a considerable display of courage, they chose to have a fourth child, who is a perfectly normal and delightful little girl.
My first two children are normal, or at least not handicapped (the schools and I regard them as gifted) but my third is borderline autistic, what they label PDD-NOS. I once scored 9 out of 10 on a quickie Aspberger’s test, but subsequent examination shows only some nerdlike tendencies. I still sometimes bill myself as borderline Aspberger’s because it conveniently explains many of my quirks.
Autism researchers have been over my sister’s family like flies. They are now interested in me, my family, and the extended clan. We’re a case study in the heritability of autism.
I have no doubt the definition of “autism”, as well as awareness of the condition, has become broader. I believe this is the real cause of the “rise” in autism diagnoses. And parents hear about how Einstein, or Thomas Jefferson, or some other famous person has been posthumously (and questionably) diagnosed as high-functioning autistic, and they think it’s not such a bad thing. There is even an “autistic pride” movement insisting that autistics are merely different, not abnormal. (I think this is clearly not the case, and I think it works against getting special education help for some kids who very badly need it.)
It is not the case that retardation is rare among autistics. It is rare among high-functioning autistics — by definition. Retardation is highly correlated with autism in general; I’ve seen estimates that 30% of classical autistics are also significantly mentally retarded. Nevertheless, the fact that some cases involve a very specific disability that does not obviously impair the rest of the brain seems like a clue.
The same Scientific American article that quotes the 30% retardation figure also mentions the theory about a specific gestational defect. The idea is that an entire segment of the fetus, corresponding to the level of the midbrain, is simply missing from these kids. This level happens to include important nerve centers controlling self-awareness, which are important to social development. If a wide segment is missing, there are other severe difficulties such as retardation. If a very narrow segment is missing, the kid may have part of the relevant nerve centers, and end up with some form of high-functioning autism. I suppose if it’s a narrow enough segment, you merely end up as a geek like myself.
There’s so much we don’t know. But we do know a few things. One is that there is great variety within the diagnosis. Another is that inheritance is involved in at least a good portion of cases. And a third is that vaccines almost certainly have nothing to do with it.
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D. Ray B.: I can’t find a citation, alas.
I’m pretty sure, that it was in a Scientific American article in the late 80s or early 90s. I can picture the graphics and they weren’t from Nature or one of the other journals.
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Further more, this mutation doesn’t seem to be dependent on the specific genetics of the parents, and as far as I know autism doesn’t show any strong correlation to inheritance.
You would be incorrect. The most recent research seems to indicate a pretty strong genetic correlation. The various autism spectrum disorders do tend to cluster in families.
While only one of my four children is on the spectrum, I have two nephews and a neice who are either on the spectrum or suspected to be on the spectrum, but not officially diagnosed.
And I also have an uncle and a cousin that while never diagnosed, looking through the lens of what we know now, appear to have been on the spectrum (both are now passed away).
I had a cousin do a really detailed and intensive geneology of our family, and many of the descriptions of my great grandfather make me wonder if he may not have either been on the spectrum or had a lot of autistic like qualities.
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