Re: [Norton AntiSpam] autism link to gene mutation

[Guest guest]

I just did a quick search on PTEN.

PTEN was found to be mutated in three of 18 people with larger than normal

heads and autism spectrum disorder. Patients with classical autism or

autism spectrum disorders and who have large heads should be offered genetic

counseling and testing for PTEN mutations

PTEN's cytogenetic location is 10q23.3 (tenth chromosome, long arm, 23rd

band). PTEN stands for phosphatase and tensin homolog. It is a human tumor

suppressor gene, and a PTEN deficiency can increase cancer risk.

Geraldine

[Norton AntiSpam] autism link to gene

mutation

> Interesting article.

> Liz

> ________

> Autism Link To Gene Mutation

>

>

> Researchers at the University of Texas Southwestern Medical Center,

> Dallas, deleted the PTEN gene in parts of the brain of mice and found

> they exhibited autistic-like traits.

>

> The researchers deleted the PTEN gene from parts of the hippocampus

> and the front of the brain. The hippocampus is an important part of

> the brain for memory, as well as for some other functions.

>

> They found the mice exhibited deficits in social interaction. They

> were also much more sensitive to some stimuli which most mice would

> not normally be bothered with.

>

> You can read about this study in the journal Neuron (May 4).

>

> PTEN mutations in humans with autism spectrum disorders (ASD) have

> also been reported, although a causal link between PTEN and ASD

> remains unclear.

>

> The author of the study, Dr. F. Parada, said " The exciting thing

> about these mice is it helps us to zero in on at least one anatomic

> location of abnormality, because we targeted the gene to very

> circumscribed regions of the brain. In diseases where virtually

> nothing is known, any inroad that gets into at least the right cell

> or the right biochemical pathway is very important. "

>

> Physical evidence for the reason for sensory overload, a problem

> experience by people with autism, was visible in the mice with the

> PTEN gene deleted. Scientists noticed the nerve cells in their brains

> were thicker than they should be, they also had more connections to

> other nerves than would be the case in mice without the deletion of

> that gene.

>

> The researchers were excited that this discovery, thicker nerve cells

> and more connections between nerves, may be the first discovery of

> the anatomical regions where things go wrong in autistic patients.

>

> The scientists plan to try out drugs with these mice. The aim will be

> to find out whether their condition can be reversed.

>

> The researchers observed the following behavioural differences

> between normal mice and the mice with the PTEN gene deleted:

>

> -- The PTEN deleted mice showed no interest in strange mice. Normal

> mice did.

>

> -- On being presented with both another mouse and an inanimate

> object, the normal mice would be more interested in the other mouse.

> The PTEN deleted mice showed equal interest in both.

>

> -- The normal mice, on being presented with new nesting material,

> would team up and start making a nest. The PTEN deleted mice would

> ignore it.

>

> -- Female PTEN deleted mice would not care for their young well, many

> of their young died.

>

> -- When placed in an open area the PTEN deleted mice became very

> stressed, unlike the normal mice.

>

> -- The PTEN deleted mice became very stressed when gently picked up

> by humans, the normal mice rarely became stressed.

>

> -- The PTEN deleted mice were much more stressed by sudden noises

> than the normal mice.

>

> On the other hand, the PTEN deleted mice did not exhibit repetitive

> behaviour or movements, common among humans with autism.

>

> Link To Abstract

>

> Written by: Christian Nordqvist

> Editor: Medical News Today

>

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