Autism Consortium members publish in PNAS: Mechanism, treatment for Rett syndrome -- top cause au...(he IGF1 signaling axis may present a use...),Health

Date:2/9/2009

he IGF1 signaling axis may present a useful therapeutic strategy that could ultimately be translated to humans," said Dr. Antony Horton, Chief Scientific Officer at the International Rett Syndrome Foundation. "We are encouraged by this collaboration between scientists and clinicians which is yielding valuable insights into potential new treatments for Rett syndrome."

About Rett Syndrome and the Findings

Rett Syndrome, a neurodevelopmental disorder mainly affecting girls and also the most common basis of autism in girls, is primarily caused by a sporadic mutation in the MECP2 gene on the X chromosome. The MECP2 gene makes a protein, also called MeCP2, believed to play a pivotal role in silencing, i.e. turning off the activity of other genes. The MECP2 mutation causes the regulatory mechanism to fail, which in turn causes other genes to function abnormally.

Rett is a genetic disorder of developmental arrest or failure of brain maturation. This is thought to occur when subsets of neurons and their connections (synapses) are disrupted during a very dynamic phase of brain development. Scientists have been investigating ways to reverse that arrest and therefore, turn brain activity back on.

By crossing into the brain and activating 'IGF1 signaling' IGF1 binds to its receptor and activates downstream molecules within neurons that make synapses mature. This activity in turn ends the developmental arrest thought to underlie the syndrome.

Using mutant mice in which MeCP2 is deleted, Sur and his co-authors demonstrated a major underlying mechanism for the disordersynapses in the brain remain immature and showed persistent, abnormal plasticity into adulthood.

"Our research is beginning to show that other forms of autism also have, as their basis, this persistent immaturity of synapses," said Sur. "As a result, an even more exciting and promising aspect of this work is the possibility that IGF1 or similar thera
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Contact: Kathryn Morris kathryn@kmorrispr.com 845-635-9828 Autism Consortium Source:Eurekalert

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