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Rett disease progression altered by changing expression of gene

Published on February 13, 2006 at 2:24 AM · No Comments

Scientists from the Whitehead Institute for Biomedical Research, Brandeis University and Massachusetts Institute of Technology report in the journal Neuron that increasing levels of brain derived neurotrophic factor (BDNF) alleviates symptoms in a mouse model of the childhood disorder Rett Syndrome.

Rett Syndrome (RTT) is a severe neurological disorder diagnosed almost exclusively in girls. Children with RTT appear to develop normally until 6 to 18 months of age, when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living. There is no cure.

In late 2003 Rudolf Jaenisch of the Whitehead Institute and Michael Greenberg of Children's Hospital Boston announced that the "Rett Syndrome gene", Mecp2, interacts with bdnf. Interestingly, BDNF is highly active in infants aged 6 to 18 months, the same age that RTT symptoms first appear. BDNF is essential for neural plasticity (ability of neural circuits to undergo changes in function or organization due to previous activity), learning and memory. BDNF is also implicated in other neurological disorders including Huntington's Disease, schizophrenia and depression.

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