Neurofibromatosis :: Tracing the pathways of neurofibromatosis

New research into the mechanisms of neurofibromatosis finds that flaws in the gene Nf1 can lead to a biochemical domino effect that results in tumors. The research, which appears in the January 10 issue of the Journal of Neuroscience, seeks to identify the biochemical pathway responsible for tumors in people with the genetic disorder. Researchers built their case based on evidence from dozens of painstaking experiments on genetically engineered fruit flies.

Michael Stern’s latest research into the formation of neurofibromatosis tumors reads something like a federal racketeering indictment, except that Stern’s tracing proteins instead of laundered money, and he’s looking not at offshore accounts but at biochemical paths of cause and effect.

The research, which appears in the Jan. 10 issue of the Journal of Neuroscience, seeks to find the biochemical pathway that’s responsible for tumors in people with the genetic disorder neurofibromatosis. Stern built his case much like a prosecutor, compiling evidence from dozens of painstaking experiments on mutant fruit flies, each with a specific genetic flaw that testified to the power of one or more proteins involved.

Neurofibromatosis is characterized by the formation of tumors of peripheral nerve cells. Scientists know the disease is caused by defects in a gene called Nf1, but they have yet to find out precisely how the defective genes cause tumors to form.

“Our results suggest that having a defect in Nf1 begins a kind of biochemical domino effect that eventually leads to tumor growth,” said Stern, professor of biochemistry and cell biology.


Leave a Comment