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Scientists make autism breakthrough

Posted by on Nov. 11, 2012 at 11:21 PM
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Scientists make autism breakthrough


Scientists at Auckland University's Centre for Brain Research say they have gained new understandings of the causes of autism, opening up new avenues for possible treatment.

The ground-breaking research, done in collaboration with Stanford University in the United States, looked at brain cell communication and genetic mutations in people with autism.

The team discovered that autism was caused by mutated brain proteins, called Shank3, weakening communication between brain cells.

Head researcher Jo Montgomery said that the discovery was exciting because it meant treatments could be investigated.

"Brain cells are incredibly sociable cells in the brain and they talk to each other all the time," she said.

"There are about 10 trillion brain cells connected by about 10 billion synapses which gives you an idea of how much chatter is going on in your brain at one time, and all that chatter underlies how you see things, how you move, how you learn and how you remember things.

"What we showed is that when you have these autism-associated mutations, this changes how synapses in the brain function."

Dr Montgomery said there was definitely reason to get excited about the possibilities for a cure for autism, at some stage in the future.

"This is becoming an increasingly prevalent disorder - the latest numbers are one in 82 children," she said. "We're not entirely sure why that is and this is becoming a major issue, we need to find out what's going on and try to help some of those people who are severely affected by it."

Dr Montgomery said the Shank3 protein would normally provide a foundation for receiving information and help the synapse "talk back".

However, mutated Shank3 proteins, found in people with autism, did not work.

"This is a very hot area of research at the moment because there is no known cause to autism," she said. "There is a very strong genetic link but the problem is not everyone has the same genetic mutation, which makes it very difficult to find out what is causing autism and how we treat it."

Dr Montgomery said now that the "first wave of research" had shown what happened, further investigations could be done to target the mutated proteins.

"We can try and rescue normal behaviour and cognitive abilities in children who are very far in the autism spectrum and are severely disabled by this disorder," she said.

"Autism is a relativity new area for research at the Centre for Brain Research.

"Now we're coming together with geneticists and other scientists within the university to form research networks that will then link with clinicians to get more information from the New Zealand population - it's a really exciting time."


The Centre for Brain Research's findings were published in the Journal of Neuroscience last week.

by on Nov. 11, 2012 at 11:21 PM
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by Member on Oct. 31, 2013 at 5:52 AM

Shank3 may be a factor in autism treatment, it will take more time to find out if it is.   Yes, it is a good discovery, but it is not yet time to declare it a possible cure.

Shank3 is involved in glutamate, another brain signaler.  It also affects how well cells reach out and connect to each other while the brain is growing.

But it isn't absolutely clear that Shank3 really is the total solution - ie, that finding it results in an autism cure.

Think about what 'upstream' and 'downstream' mean.   Say someone blocks a stream upstream of where you are.   You'd have to hike up to where that block was, to open the stream.   What you see down by where you are, isn't always what's causing the problem.   And isn't always the cure.   It might be part of your treatment, though.   So you have to look into it.

And if your 'treatment' was to pump in more water where you are, that might solve the water problem, ie, TREAT it, but not CURE it.

Now think of that stream as - time.   You may see a problem in the brain of the child or adult, but affecting it might mean treatment starts before that phase of brain growth - and that could mean treatment starts near conception.

Though sometimes, treatment is darn good and far preferable to not doing anything.

In some cases, treatment is actually preferable to cure, or is possible, and cure isn't.  

With very early treatment/preventatives - every mother gets the treatment.   treatment could be 'self targeting' (it does nothing if the particular thing it is designed to treat is at normal levels), or autism can be diagnosed long before birth.

My own feeling is that with autism, there are a number of different things that are going wrong, and that Shank3 is just one of them.   Treating only the disruption caused by Shank3 could possibly have far reaching effects, but probably would need to be started very soon after conception.

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