Neurofibromatosis Nourishment

One in 3000 people in the UK has neurofibromatosis type 1 – a genetic disease, affecting multiple tissues including muscle and bone, which is caused by faults in the NF1 gene. Lack of functioning NF1 in muscle causes muscle weakness and fat build-up in muscle cells. These defects are reversed with dietary changes affecting fat production and breakdown (lipid metabolism). Researchers investigated whether such a modified diet could reverse the defects the disease causes in bones. Using microCT (X-ray based high-res 3D imaging), they imaged bones from normal mice (pictured, left), and mice lacking Nf1 in their limbs who were fed a standard diet (middle) or modified diet (right) designed to influence lipid metabolism. On a standard diet, mutant bones were four times more porous than normal bones as detected by more open pores (red). This defect was rescued in mutants fed the modified diet, highlighting its potential to treat neurofibromatosis bone defects.

Written by Lux Fatimathas

Lux Fatimathas

Writer

Having pursued science through a career in research, communications and publishing, she is currently a writer and editor for a healthcare marketing agency and also juggles freelance science writing.

• Image from work by Alexandra K. O’Donohue and colleagues
• Bioengineering and Molecular Medicine Laboratory, The Children’s Hospital at Westmead and the Westmead Institute for Medical Research, Westmead, NSW, Australia
• Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)
• Published in PLOS ONE, June 2024