Nevit Dilmen [creativecommons license] via Wikimedia CommonsNeurofibromatosis type 1 (NF1) is characterized by skeletal abnormalities such as scoliosis, fragility, fractures and pseudoarthrosis (failure of bones to fuse properly after fractures). The disorder is caused by mutations of neurofibromin, a protein that regulates cellular signaling pathways. New research from investigators at Vanderbilt University (Nashville, TN) suggests that treatment with the enzyme asfotase-α prevents skeletal defects in a mouse model of NF1 by increasing bone growth, mineralization and strength.
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