The Effect of MEK Inhibitor Treatment on Metabolism in Neurofibromatosis Type 1

Abstract

Patients with NF1 are predisposed to the development of plexiform neurofibromas (pNF) and also have other defining clinical features including those related to growth and energy metabolism, such as short stature, low weight, and decreased bone density--findings that are often more prominent in patients with high pNF burden. Interestingly, this phenotype changes in patients who are on Mek-inhibitor treatment. However, the mechanism for this metabolic phenotype in patients with NF1 and its association with pNF tumor burden and change with MEK- inhibitor treatment is not currently understood. In this proposal, we will perform metabolic and metabolomic analyses on NF1-deficient mice that develop plexiform neurofibromas and patients with NF1 who do or do not have plexiform neurofibromas. The effect of Mek-inhibitor treatment on metabolism in NF1 will also be explored. All regulatory approvals have been acquired, and the patient and mouse studies are ongoing.

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Document Details

Document Type
Technical Report
Publication Date
Aug 01, 2023
Accession Number
AD1213459

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  • Miriam Bornhorst

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