Re: Re: French Researchers Identify Gene Linked to Au...

[Guest guest]

In a message dated 1/3/2007 10:18:57 A.M. Central Standard Time,

bbliss1@... writes:

The good news is that the 22q13 research looks very promising. There's an

experimental trial of intranasal insulin and in Germany and there's a

methylation study which will be starting in Italy.

Hi Geraldine,

R. here, does the above mean that researchers are trying to develop

treatments using intranasal insulin and methylation for people with 22q13

deletion? What kind of relief or effects are they hoping for?

[Guest guest]

Hi . Happy New Year!

The SHANK3 gene codes for the SHANK3 protein, which is sort of like a neural

lubricant in the post-synaptic densities (the space in between neurons). If you

are low on SHANK3 protein, as your neural networks build, there's a chance the

neural network will fail and skill loss will result. That may provide an

explanation as to why so many kids with autism lose skills between 18-30 months.

here it has an excitatory effect in the post-synaptic densities. The treatment

has been used successfully in patients with other types of neurological

disorders, so now it's being tried in patients with 22q13 del.

The methylation study aims to create the SHANK3 protein from RNA, and then the

long-term goal would be to get that protein into the places where it's too low.

It's probably too early to speculate about how successful either of these

options will be. What's very exciting is that instead of relieving the

" symptoms " with stimulant meds/atypical antipsychotics/SSRI's/mood stabilizers,

this is an effort

Re: Re: French Researchers Identify Gene

Linked to Au...

In a message dated 1/3/2007 10:18:57 A.M. Central Standard Time,

bbliss1@... writes:

The good news is that the 22q13 research looks very promising. There's an

experimental trial of intranasal insulin and in Germany and there's a

methylation study which will be starting in Italy.

Hi Geraldine,

R. here, does the above mean that researchers are trying to develop

treatments using intranasal insulin and methylation for people with 22q13

deletion? What kind of relief or effects are they hoping for?

[Guest guest]

Hi Geraldine and Happy New Years too:

Thank you for the very knowledgeable answer. You have done your homework

well. I hope and pray this will be a viable treatment you and your family will

pursue for in the not-so-distant future. Dawson was only tested for

Fragile X and I wonder if I should consider more genetic testing. What lead up

to ' doctors to do this kind of genetic testing? CReece