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Scientists link protein to the insulation of the nervous system's wiring
Date:1/27/2011

nock-out the Erk gene during the development of the peripheral nervous system in mice. After knocking out the gene, the researchers were surprised to find that the neurons of the mutant mice appeared to be relatively unaffected.

"But we did see a dramatic effect in these myelinating cells called Schwann cells, which wrap the fibers in the peripheral nervous system with myelin to allow the rapid conduction of signals," said Snider. "These cells were just devastated at every stage of development."

The discovery informs the study of neurodevelopmental disorders such as neurofibromatosis, a genetic disease that affects 1 out of every 3000 people. In people with this disease, Schwann cells grow in an unregulated fashion, dotting the peripheral nerves with tumors.

Now that scientists have identified close to 30 genetic mutations in the MAP kinase pathway, Newbern says that there is increasing awareness of the importance of ERK signaling to neurodevelopmental disorders.

"So it provides a very compelling argument that we need to figure out what this pathway is doing in an in vivo setting, in a live animal," said Newbern.

Because the cognitive defects experienced by patients with neurodevelopmental delay are more closely linked to the development of the central nervous system than to the peripheral nervous system, the researchers plan to expand their studies to see what the effects might be of losing Erk in the brain. They also want to develop models than can recapitulate what happens when this pathway is overactive, as is the case with neurofibromatosis.


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Contact: Les Lang
llang@med.unc.edu
919-966-9366
University of North Carolina School of Medicine
Source:Eurekalert

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