Scientists identify gene mutation in autism

[Rich Parsons]

Scientists identify gene mutation in autism


http://news.yahoo.com/s/nm/20061217/hl_nm/france_autism_dc

PARIS (Reuters) - French scientists have identified genetic mutations in a small number of children with autism which could provide insight into the biological basis of the disorder.

They sequenced a gene called SHANK3 in more than 200 people with autism spectrum disorders (ASD), which includes autism, and found mutations in the gene in members of three families.

. . .

"These mutations concern only a small number of individuals, but they shed light on one gene ... that is involved in autism spectrum disorders," Thomas Bourgeron, of the Pasteur Institute in Paris, said in a report in the journal Nature Genetics.

 

[exile]

This is very important news—not just because of the light it sheds on autism but because, now that a gene complex associated with autism has been identified, it's very likely that variants of that complex will turn out to be implicated in other disorders, some possibly related to autism, others not, opening the door to gene therapies across a much wider spectrum of disorders. It's often the way things work in genetic research—once you find the end of the thread, pulling on it untangles a whole web of phenomena, not just the one you started with. Let's hope!

 

[Tames D]

Thanks for the info Rich. Having a 5 year old Autistc son, I always welcome good news. It can be a challenge sometimes.

 

[Rich Parsons]

Thanks for the info Rich. Having a 5 year old Autistc son, I always welcome good news. It can be a challenge sometimes.

I know there are some on this board who post or lurk who have Autism in there families, and would like to hear about it.

To me it is interesting for the science, but it is nice to share.

Your Welcome

 

[Arizona Angel]

That makes sense. Interesting. I have a 10 year old son with autisum. Not mine by birth, but I claim him. We always felt as if he exsists in a parallel universe. Genes are such amazing things. Would like to get ahold of a specialist who could answer all my questions about DNA, genes, etc.

 

[mrhnau]

That makes sense. Interesting. I have a 10 year old son with autisum. Not mine by birth, but I claim him. We always felt as if he exsists in a parallel universe. Genes are such amazing things. Would like to get ahold of a specialist who could answer all my questions about DNA, genes, etc.

What kind of questions?

 

[Infinite]

Just a quick note that last month or the month before Sci American was running an article on Mirror Nuerons and how they are also linked to Autism.

I can dig up the article if anyone wishes it.

--Will

 

[exile]

Just a quick note that last month or the month before Sci American was running an article on Mirror Nuerons and how they are also linked to Autism.

I can dig up the article if anyone wishes it.

--Will

Be good to have that reference, Will—and thanks!

 

[Grenadier]

Very encouraging.

While any such treatments that can be derived from this work are a ways off, at least it offers hope.

 

[Infinite]

Be good to have that reference, Will—and thanks!

Here is another article about the same discovery:
http://www.sciencedaily.com/releases/2005/04/050411204511.htm

It is all very encouraging.

--Will

 

[shesulsa]

Scientists have been finding genetic mutation on several genes which affected a tiny percentage of the autism community for the past five years as well as alleles and chromosomes ....

I have a soon-to-be 17 year old son with autism and have watched result after result after result whiz by. My feeling is that what is classified as "austim" is actually a group of symptoms indicating a much bigger problem than western medicine can address at this point other than to treat the behaviors and intervene as early as possible. I think what we call "autism" has MANY causes and involves a host of alternative symptoms which manifest in as many different combinations as there are patients.

Having seen what a porcine hormone (as well as my son's allergic reaction to it) did for him (as well as the GFCF diet, vitamin B6 and magnesium, B12, intestinal pro-biotics, etcetera) I firmly believe autism involves allergies and suppressions of certain hormones, gut peptides which cross the intestinal/blood/brain barriers, ravage the immune system and CSF and alter our children chemically and genetically.

I don't mean to be a wet blanket, but ... we are a long ways from a cure, folks.

 

[Tames D]

Scientists have been finding genetic mutation on several genes which affected a tiny percentage of the autism community for the past five years as well as alleles and chromosomes ....

I have a soon-to-be 17 year old son with autism and have watched result after result after result whiz by. My feeling is that what is classified as "austim" is actually a group of symptoms indicating a much bigger problem than western medicine can address at this point other than to treat the behaviors and intervene as early as possible. I think what we call "autism" has MANY causes and involves a host of alternative symptoms which manifest in as many different combinations as there are patients.

Having seen what a porcine hormone (as well as my son's allergic reaction to it) did for him (as well as the GFCF diet, vitamin B6 and magnesium, B12, intestinal pro-biotics, etcetera) I firmly believe autism involves allergies and suppressions of certain hormones, gut peptides which cross the intestinal/blood/brain barriers, ravage the immune system and CSF and alter our children chemically and genetically.

I don't mean to be a wet blanket, but ... we are a long ways from a cure, folks.

I really hate to say this but... I tend to agree with you.

 

[Ping898]

I don't mean to be a wet blanket, but ... we are a long ways from a cure, folks.

Though this is no doubt true....every little bit helps and every discovery that comes up and gets people excited helps to spur more research and get more research dollars into the hands of people doing the research....and you have no idea which one of these research discoveries will prove to be a crucial key that enables better therapies or better understanding of the causes...

 

[shesulsa]

Though this is no doubt true....every little bit helps and every discovery that comes up and gets people excited helps to spur more research and get more research dollars into the hands of people doing the research....and you have no idea which one of these research discoveries will prove to be a crucial key that enables better therapies or better understanding of the causes...

Indeed, this is true. One can never really know which finding is going to be the key to unlocking the door.

:asian:

 

[Rich Parsons]

Indeed, this is true. One can never really know which finding is going to be the key to unlocking the door.

:asian:

Or as you stated the one that works for your child or the child one knows. One cannot ask a doctor about it if they do not know.

I agree "G" that it looks to be a many source issue, and treating the symptoms is all they can do. But as others have stated as well, each little step helps the next research person decode something else.

Those who have lived though this with their families or through the latest drugs for cancer know there most likely is not a silver bullet, yet we still keep trying.

I meant not to present this as if Autism was a thing of the past. Just sharing information.

:asian:

 

[donna]

Scientists have been finding genetic mutation on several genes which affected a tiny percentage of the autism community for the past five years as well as alleles and chromosomes ....

I have a soon-to-be 17 year old son with autism and have watched result after result after result whiz by. My feeling is that what is classified as "austim" is actually a group of symptoms indicating a much bigger problem than western medicine can address at this point other than to treat the behaviors and intervene as early as possible. I think what we call "autism" has MANY causes and involves a host of alternative symptoms which manifest in as many different combinations as there are patients.

.

I don't mean to be a wet blanket, but ... we are a long ways from a cure, folks.

I agree, My son has just turned 21 and even to get a diagnosis, so you can access any limited help that may be avaliable, is an difficult process.
We have had to go it alone , as have many others, because Doctors have a hard time even agreeing on diagnosis.

 

[shesulsa]

I meant not to present this as if Autism was a thing of the past. Just sharing information.

I know.