Journal article

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 SCIENCE | Published : 2020

Abstract

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..

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Grants

Awarded by Children's Tumour Foundation Drug Discovery Initiative Registered Report Award


Funding Acknowledgements

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.