Mouse Model Shows Possible Neurofibromatosis Treatment

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Researchers at the University of Texas Southwestern Medical Center may have identified a possible therapy to reverse the effects of neurofibromatosis type 1 (NF1) based on a mouse model.

The childhood neurological disease is caused by inherited mutations in the gene that encodes for neurofibromin, a protein that regulates cell growth and contributes to the development of the cerebellum. The disease is characterized by cognitive and motor deficits and autism, as well as memory impairment and behavioral symptoms.

Using a mouse model to simulate the loss of neurofibromin, researchers found that resulting anatomical defects in the cerebellum could be reversed by treating the mice with a molecule that counteracts the loss of neurofibromin.

Researchers inhibited the ERK pathway that interferes with cerebellum development and were able to reverse some of the anatomical defects in the cerebellum. 

Cerebellum
Mouse Model Shows Possible Neurofibromatosis Treatment

UT Southwestern Medical Center researchers have identified a possible therapy to treat neurofibromatosis type 1 or NF1, a childhood neurological disease characterized by learning deficits and autism that is caused by inherited mutations in the gene encoding a protein called neurofibromin.

Researchers initially determined that loss of neurofibromin in mice affects the development of the part of the brain called the cerebellum, which is responsible for balance, speech, memory, and learning.

The research team, led by Dr. Luis F. Parada, Chairman of Developmental Biology, next discovered that the anatomical defects in the cerebellum that arise in their mouse model of NF1 could be reversed by treating the animals with a molecule that counteracts the loss of neurofibromin.
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