Evaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1)
Emily R Vasiljevski, Peter J Houweling, Thusitha Rupasinghe, Tarneet Kaur, Matthew A Summers, Ute Roessner, David G Little, Aaron Schindeler
PLoS One | Public Library of Science (PLoS) | Published : 2020
Neurofibromatosis type 1 (NF1) is a genetic disorder that affects a range of tissue systems, however the associated muscle weakness and fatigability can have a profound impact on quality of life. Prior studies using the limb-specific Nf1 knockout mouse (Nf1Prx1-/-) revealed an accumulation of intramyocellular lipid (IMCL) that could be rescued by a diet supplemented with L-carnitine and enriched for medium-chain fatty acids (MCFAs). In this study we used the Nf1Prx1-/- mouse to model a range of dietary interventions designed to reduce IMCL accumulation, and analyze using other modalities including in situ muscle physiology and lipid mass spectrometry. Histological IMCL accumulation was signi..View full abstract
Awarded by Children's Tumour Foundation Drug Discovery Initiative Registered Report Award
This work is financially supported by the Children's Tumour Foundation (https://www.ctf.org/) Drug Discovery Initiative Registered Report Award to AS (2018-05-001). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.