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Neurofibromin Modulates Metabolism via Neuronal Mechanisms

Updated: Mar 11, 2022

July 13, 2021


Neurofibromatosis type 1 (NF1) is a genetic disorder that predisposes individuals to a range of symptoms from various tumors and cancers to cognitive and behavioral alterations. Emerging evidence suggests that it may also affect metabolism. A newly published study from the Tomchik lab found metabolic alterations in a Drosophila NF1 model, dissecting the molecular and neurons circuit mechanisms underlying the effect.




Does NF1 alter metabolism? Do metabolic alterations contribute to disease pathophysiology?

To answer these questions, we are examining metabolism in the Drosophila model of NF1. NF1 is caused by mutations in the gene that encodes a protein called neurofibromin. Neurofibromin is highly conserved across species, from flies to humans. The common fruit fly Drosophila melanogaster is a powerful genetic model organisms that allows dissection of fundamental cellular and molecular processes, as well as the neuronal and metabolic functions. We examined how loss of neurofibromin affects metabolism in Drosophila, finding that it increases metabolic rate, decreases lipid (triglyceride) stores, increases lipid turnover rate, and increases feeding. These effects were due to actions of neurofibromin in neurons, and were dependent on its Ras GAP domain (implicating downstream Ras signaling in Nf1 metabolic effects). This study sheds light on some of the fundamental metabolic features of NF1 metabolic effects.


For more information, see the Scripps Research news release and the manuscript at Nature Communications

The study was led by graduate student Valentina Botero, supervised by Dr. Seth Tomchik, and carried out in collaboration with four other labs: William Ja, Alex Keene, James Walker, and Ken Colodner. Research support was provided by the National Institutes of Health (R01 NS097237, R01 AG045036, R01 NS085152, DC017390, R21 NS096402), the U.S. Department of Defense (NFRP W81XWH-16-1-0220) and the Kanter family.

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