Autism gene breakthrough hailed

[dyslimbic]

Autism gene breakthrough hailed

Chromosome 11 was identified as one of the culprits
Scientists have found new autism genes by scanning the largest collection of families with multiple cases of autism ever assembled.
The monumental task of studying the 1,200 families took more than 120 scientists from more than 50 institutions across 19 countries.

The work, described in Nature Genetics, implicates a region of chromosome 11 and a specific gene called neurexin.

http://news.bbc.co.uk/1/hi/health/6369347.stm

[milivica]

I seem to remember also something about chromosome 17...was that the number?

Anyhow, I'm all for this kind of thing cause I'm dying to know the cause, but really it doesn't do anything to make my child or any other better off. I'd really like to see more focus and MONEY put into that. Although I am always happy to hear there is interest and focus on autism.

So, let's say it is discovered that there is a responsible chromosome or set of chromosomes...is that something that can be helped, like the deaf can be with cochelar(sp) implants, or is all this chromosome studying just to know the cause (or one of the causes) but it won't help people to gain anything.

Thanks for this info too!

[lisa6wks]

Another interesting thing I read the other day was that one of the largest causes of genetic autism was Klinfelters syndrome (46XXY) it evidently happens in one out of every 600 hundred boys. I had no idea that it was so prevalent.

Lisa

[autismas57]

Autism gene breakthrough hailed

Chromosome 11 was identified as one of the culprits
Scientists have found new autism genes by scanning the largest collection of families with multiple cases of autism ever assembled.
The monumental task of studying the 1,200 families took more than 120 scientists from more than 50 institutions across 19 countries.

The work, described in Nature Genetics, implicates a region of chromosome 11 and a specific gene called neurexin.

http://news.bbc.co.uk/1/hi/health/6369347.stm


Great article! Interesting reading.

[peglem]

I'm wondering if they are so eager to find a gene because then they could screen for it prenataly-thus preventing so many autistic kids being born...it worked for Downs Syndrome. Maybe I'm just pessimistic, but they seem much more eager to find a gene than treatments that work.

[Isabelle]

two versions
http://psychcentral.com/news/2007/02//19/new-genetics-links-for-autism/
http://www.thestar.com/News/article/1832267

my question, as usual,what cause such severe damage to the human DNA?
instead of answer that question to take precautionary steps, they are going into prenatal tests and which could be followed by abortions. ok, other people would be afraid to get pregnant in case.... and hopefully decide to adopt healthy children from third world countries.

i agree with mili, funds should be use for education and support of those living.

[lisa6wks]

Isabelle,
I just went to a conference on genetic syndromes in the classoom and the keynote speaker was Dr. Collins from the Human Genome Project. He said that genes are mutating all the time, its just they don't necessarily change things we can see or measure or they are changes for the better. I would hope they are looking for causes and treatments at the same time. After all, sometimes when they find out what causes something, sometimes they can treat like in PKU where they put the babies on special diets to stop the children from becoming mentally impaired.

Lisa

[Lara]

Here's something about the Neurexin 1. Don't ask me what it all means lol

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600565
OMIM

*600565
NEUREXIN 1; NRXN1
Gene map locus 2q32


...and here's something I read last week from a psychology aspect about twins and twin studies. I thought it was interesting. I've just quoted a bit, but there's more on the article.
http://bps-research-digest.blogspot.com/2007/02/why-psychologists-study-twins.html
Friday, February 09, 2007
Why psychologists study twins

It’s the same for a diagnosis of autism: when one identical twin has autism, in 60 per cent of cases their co-twin also has autism. With fraternal twins there is a different pattern: most of the time when one twin has autism, the other does not have a diagnosis.

Just as much as twin studies have told us about genetics, they have been paramount in revealing the importance of the environment. For example, it is true that about 60 per cent of identical twins have the same autism diagnosis i.e. if one is autistic, the other is too. But in the other 40 per cent or so of identical twins, if one has autism, the other does not. This is sound proof that autism is not completely genetically determined – because if it were, both identical twins in a pair would always show the same degree of autistic problems. Genes play a role in risk but there must be some influence of the environment on the child’s outcome as well.

[Lara]

I seem to remember also something about chromosome 17...was that the number?

Yes Mili,
17 has annotations in OMIM, but so do many, many more.
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609378
4: %609378 Links
AUTISM, SUSCEPTIBILITY TO, 6; AUTS6
Gene map locus 17q21

This older study used 345 families shows how complicated it is. There are so many implicated.
the latest study that Dyslimbic posted above used "1,200 families worldwide in which at least two members were affected by autism".

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=13680528

Am J Hum Genet. 2003 Oct;73(4):886-97. Epub 2003 Sep 17.

A genomewide screen of 345 families for autism-susceptibility loci.
Yonan AL, Alarcon M, Cheng R, Magnusson PK, Spence SJ, Palmer AA, Grunn A, Juo SH, Terwilliger JD, Liu J, Cantor RM, Geschwind DH, Gilliam TC.

Department of Genetics and Development and Columbia Genome Center, Columbia University, New York, NY 10032, USA.

We previously reported a genomewide scan to identify autism-susceptibility loci in 110 multiplex families, showing suggestive evidence (P <.01) for linkage to autism-spectrum disorders (ASD) on chromosomes 5, 8, 16, 19, and X and showing nominal evidence (P <.05) on several additional chromosomes (2, 3, 4, 10, 11, 12, 15, 18, and 20). In this follow-up analysis we have increased the sample size threefold, while holding the study design constant, so that we now report 345 multiplex families, each with at least two siblings affected with autism or ASD phenotype. Along with 235 new multiplex families, 73 new microsatellite markers were also added in 10 regions, thereby increasing the marker density at these strategic locations from 10 cM to approximately 2 cM and bringing the total number of markers to 408 over the entire genome. Multipoint maximum LOD scores (MLS) obtained from affected-sib-pair analysis of all 345 families yielded suggestive evidence for linkage on chromosomes 17, 5, 11, 4, and 8 (listed in order by MLS) (P <.01). The most significant findings were an MLS of 2.83 (P =.00029) on chromosome 17q, near the serotonin transporter (5-hydroxytryptamine transporter [5-HTT]), and an MLS of 2.54 (P =.00059) on 5p. The present follow-up genome scan, which used a consistent research design across studies and examined the largest ASD sample collection reported to date, gave either equivalent or marginally increased evidence for linkage at several chromosomal regions implicated in our previous scan but eliminated evidence for linkage at other regions.
PMID: 13680528 [PubMed - indexed for MEDLINE]

[milivica]

Trying to understand some of this info makes me feel like my head's going to explode!

There's so much here I had no idea about, and so much here I sure can't understand cause I'm not quite that ejumacated, lol.

Lisa, I'll have to look up Klinfelters, I don't remember hearing that word before.

Peglem, the idea of this research being done so kids with autism can be aborted, that's really scary - yet it makes sense that might be part of the intention. I didn't know you could screen for Down's - I really don't know what all can be screened for, I refused to do it, I wouldn't have aborted anyway so figured if my child was going to have problems why make myself upset about it any sooner than I have to, I wanted to enjoy my pregnancy (you know, the puking and weight gain and pinched nerve in the back and emotions and sore leaky boobs - woo hoo).

I can't knock parents that would abort, but can't get a grasp on it either....cause like where do you draw the line? Will there be a day if the child isn't blond and blue eyed folks will abort? I saw this show, God forgive me but I felt really furious cause there were these parents mourning and crying their choice to abort their baby when it was thought it wasn't 'normal' then after the abortion turned out it was normal. I felt sick, like gee would you two even be crying if the baby was abnormal and dead? It's like they were mourning THEIR loss but not the life of the baby - normal or not - that was lost.

Anyhow, IEP tomorrow. Breeeeeeeeeeeeathe. It's gonna suck so bad. I plan not to say a lot more than without being able to observe him at school, it's pretty hard to participate in this process - so - I'll have to go over the IEP with his dad, the RDI consultant, then get back to them. It's not as if they consider my input anyhow. HOWEVER, the consultant has given GREAT ideas, none of which they've put in the IEP, so, I will bring all that paperwork and ask why they haven't. It's so upsetting really, it's hard to explain how crushing it feels. But as long as I am able, I will continue to do what I can to get RDI into the school for all the kids that need it. I have a consultant that makes that possible, cause I sure couldn't begin to do it alone.

What the heck am I babbling on about on a thread about chromosomes and stuff? Better go!
Mili

[peglem]

Good luck on the IEP tomorrow! I'll pray for the Spirit to inspire you!

[autismas57]

I'm wondering if they are so eager to find a gene because then they could screen for it prenataly-thus preventing so many autistic kids being born...it worked for Downs Syndrome.

We live in a free country and no one is forcing you to abort your kids!

Maybe I'm just pessimistic, but they seem much more eager to find a gene than treatments that work.

They do look for treatements that *WORK*. Please look up Gene Therapy. PLEASE.

[Isabelle]

mili, peglem, et la, my friend that for a while thought her 4th baby was hydrocephalus is expecting her 6th baby. because she is on her early 40s the doctors, geneticists pressured her on all sort tests in addition to the anmionic (sp) one and they wouldn't let her go until she consent the pressure was psychological: insinuations, images of an autistic child, the burden of having a disabled child, a downs child, the cost to raise and care, to think of the siblings, a parental responsibility, at her age to tied down caring for a disabled child, the child's suffering, not in that order but boy ! if she had a breakdown. she was on her third to the 4th month and they wanted to do a safe abortion if the fetus had serious congenital defects.

so, i am not surprise if these scientists are going for prenatal tests, there is a lot of money with each test even though not one of them are 100% conclusive, as my friend found out.
the geneticist couldn't even speak was "uh,uh", to her questions. my friend was screaming, "is the baby normal or not?" she couldn't tell... just uh?
my friend was exasperated, why so many tests if not one couldn't say for a fact the fetus was 100% normal and, even if something was amiss that was not 100% proof that something was seriously wrong.
my friend was angry, her husband more so.....the anguish she went through waiting for the results and the pressure for more tests.
for goodness' sake she had 5 perfectly normal, bright, intelligent children... three of them born with midwife help and all natural.

[Isabelle]

Isabelle,
He said that genes are mutating all the time, its just they don't necessarily change things we can see or measure or they are changes for the better. I would hope they are looking for causes and treatments at the same time. After all, sometimes when they find out what causes something, sometimes they can treat like in PKU where they put the babies on special diets to stop the children from becoming mentally impaired.

Lisa

Lisa, do you feel comforted by Dr. Collins' words?

I don't want to upset you but I have read as a fact now there 1 child with AS among 165 kids....no daring to mention babies born in the hundreds with so many metabolic, mytocondrial, autoimmune disorders, "rare" genetic disorders that now is so common, DNA damages from conception, and so forth.

Well, Dr. Collins doesn't want to alarm the people into demanding answers. I am finding sad that those words are used to placate the uneducated/unsophisticated mass, but with Internet many people is getting an education in a flash.

These scientists can travel back in time and see how man came from one cell molecule and they want us to accept that genetic changes/mutations are for the BETTER ???? :eek:

I see some high functioning autistic doing Einstein discoveries if they are not medicating for ADD or ADHD...:cool: :rolleyes:

[lisa6wks]

I don't think what he said was meant to be comforting. I think it was just the truth. You are always better off knowing the truth. And some of those children born with all those rare conditions, those are the ones I teach. I love them and consider myself honored to know them.

Lisa

[Isabelle]

I don't think what he said was meant to be comforting. I think it was just the truth. You are always better off knowing the truth. And some of those children born with all those rare conditions, those are the ones I teach. I love them and consider myself honored to know them.

Lisa

i don't really get the meaning of what you are saying, sorry :( "I think it was just the truth. You are always better off knowing the truth." ?????
but i know people feel good working for the most disadvantaged without questioning why there are so many.
Never mind me, it is not important.

[lisa6wks]

Isabelle,
Even if we disagree, I do think your opinion is important :) One of the reasons we have so many more children with disabilities nowadays is because we are saving so many more lives medically and because there is an increase in reporting now that we know so much more about genes and the human body.

Lisa