Ability Forum

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Protein mutations link to autism

Boy with autism
Autism impairs social interaction
Scientists have discovered how mutations in two key proteins may lead
to autism.

They have shown one protein increases the excitability of nerve
cells, while the other inhibits cell activity.

The University of Texas team found that in normal circumstances the
proteins balance each other out.

But the study, published in Neuron, suggests that in people with
autism the balance between the proteins is knocked out of kilter.

Understanding how the autistic brain is different to the
neurotypical brain will have significant implications for education
and intervention

Professor Simon Baron-Cohen
University of Cambridge

The findings back the theory that autism involves an imbalance
between excitatory and inhibitory connections between nerve cells.

The proteins, which serve to physically link nerve cells together,
were discovered by the team at the university's Southwestern Medical
Center more than
a decade ago.

However, until the latest study their exact function had been unclear.

Lead researcher Dr Ege Kavalali said: "Mutations in these proteins
have recently been linked to certain varieties of autism.

"This work provides clear insight into how the proteins function. We
can never design a therapeutic strategy without knowing what these
mutations do."

Bridge between cells

The proteins - neuroligin-1 and neuroligin-2 - create a physical
bridge at the junction - or synapse - of nerve cells, enabling them
to make connections
with others.

In studies on rats the researchers showed that raising levels of both
proteins in nerve cells led to the creation of extra synapses.

Neuroligin-1 was associated with excitatory connections and
neuroligin-2 with inhibitory connections.

When they introduced a mutant form of neuroligin-1 thought to be
carried by some people with autism the number of synapses fell
dramatically - and the cells
became significantly less excitable.

Infants are born with far more synapses than survive to adulthood.
Active synapses proliferate during development, but inactive synapses
are culled.

The latest research suggests that carrying a mutant form of
neuroligin-1 may depress the number of synapses that make it into
adulthood.

This could hamper the ability of nerve cells to make the usual
connections, and lead to the deficits seen in people with autism.

It affects the way a person communicates and interacts with other
people.

Communication problems

People with autism can have difficulties relating to - and
understanding the feelings - of others.

For some, this can make it tough to develop friendships, and to make
sense of the world at large.

Autism is often also associated with learning disabilities.

Professor Simon Baron-Cohen, director of the Autism Research Centre
at the University of Cambridge, said research into the role of
neuroligins in autism
was important.

He said: "We need to know more about both the genes that code for
neuroligins, and the neuroligins themselves, to establish if they
play a specific role
in the cause of autism spectrum conditions and in which subgroup.

"Understanding how the autistic brain is different to the
neurotypical brain will have significant implications for education
and intervention."
Source:
http://news.bbc.co.uk/1/hi/health/6221064.stm#startcontent

_________________
Warmly,

Amit Bhatt
New Delhi, India
Mob: +91-9013323229
"Alone we can do so little, together we can do so much"-Helen Keller.

Protein mutations link to autism

Boy with autism
Autism impairs social interaction
Scientists have discovered how mutations in two key proteins may lead
to autism.

They have shown one protein increases the excitability of nerve
cells, while the other inhibits cell activity.

The University of Texas team found that in normal circumstances the
proteins balance each other out.

But the study, published in Neuron, suggests that in people with
autism the balance between the proteins is knocked out of kilter.

Understanding how the autistic brain is different to the
neurotypical brain will have significant implications for education
and intervention

Professor Simon Baron-Cohen
University of Cambridge

The findings back the theory that autism involves an imbalance
between excitatory and inhibitory connections between nerve cells.

The proteins, which serve to physically link nerve cells together,
were discovered by the team at the university's Southwestern Medical
Center more than
a decade ago.

However, until the latest study their exact function had been unclear.

Lead researcher Dr Ege Kavalali said: "Mutations in these proteins
have recently been linked to certain varieties of autism.

"This work provides clear insight into how the proteins function. We
can never design a therapeutic strategy without knowing what these
mutations do."

Bridge between cells

The proteins - neuroligin-1 and neuroligin-2 - create a physical
bridge at the junction - or synapse - of nerve cells, enabling them
to make connections
with others.

In studies on rats the researchers showed that raising levels of both
proteins in nerve cells led to the creation of extra synapses.

Neuroligin-1 was associated with excitatory connections and
neuroligin-2 with inhibitory connections.

When they introduced a mutant form of neuroligin-1 thought to be
carried by some people with autism the number of synapses fell
dramatically - and the cells
became significantly less excitable.

Infants are born with far more synapses than survive to adulthood.
Active synapses proliferate during development, but inactive synapses
are culled.

The latest research suggests that carrying a mutant form of
neuroligin-1 may depress the number of synapses that make it into
adulthood.

This could hamper the ability of nerve cells to make the usual
connections, and lead to the deficits seen in people with autism.

It affects the way a person communicates and interacts with other
people.

Communication problems

People with autism can have difficulties relating to - and
understanding the feelings - of others.

For some, this can make it tough to develop friendships, and to make
sense of the world at large.

Autism is often also associated with learning disabilities.

Professor Simon Baron-Cohen, director of the Autism Research Centre
at the University of Cambridge, said research into the role of
neuroligins in autism
was important.

He said: "We need to know more about both the genes that code for
neuroligins, and the neuroligins themselves, to establish if they
play a specific role
in the cause of autism spectrum conditions and in which subgroup.

"Understanding how the autistic brain is different to the
neurotypical brain will have significant implications for education
and intervention."
Source:
http://news.bbc.co.uk/1/hi/health/6221064.stm#startcontent

_________________
Warmly,

Amit Bhatt
New Delhi, India
Mob: +91-9013323229
"Alone we can do so little, together we can do so much"-Helen Keller.

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