Research sheds light on how muscle fibres degenerate in Duchenne Muscular Dystrophy

1 Oct 2018, 3:56 p.m.

Test tubes on a revolving plate in a lab

A novel cell death process known as necroptosis is responsible for the degeneration of muscle cells over time in Duchenne muscular dystrophy (DMD), according to new research from the National Institute for Health Research (NIHR) Great Ormond Street Hospital (GOSH) Biomedical Research Centre.  DMD, a serious neuromuscular condition that affects one in 5000 boys, is caused by errors in the dystrophin gene. This life-limiting condition causes muscle cells to be lost over time and scar tissue to build up making movement increasingly difficult.

In this study, researchers based at GOSH and the UCL Great Ormond Street Institute of Child Health (ICH) found that necroptosis, a newly-described mechanism of controlled cell death, plays a major role in the death of muscle fibres in dystrophin-deficient cells studied in the lab.

This research, led by Dr Maximilien Bencze, Research Associate at the Dubowitz Neuromuscular Centre at ICH, found that a protein called RIPK3 was involved in regulating death of muscle cells over time. They also found that less muscle cells die when RIPK3 was absent, pointing to a potential target for DMD therapies in the future. This cell death mechanism may also be involved in other neuromuscular disorders and this will be tested in future research.

The research was published in Nature Communications.

Work using human tissue samples was supported by NIHR via the GOSH BRC

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