Scientists have made a link between muscular dystrophy and a group of bioactive fats, the sphingolipids, which are involved in numerous cell functions and other diseases.

Muscular dystrophy

Muscular dystrophy is an umbrella term for diseases where gene mutations result in progressive weakness and breakdown of skeletal muscles. About half of all muscular dystrophy cases involve Duchenne muscular dystrophy (DMD). DMD arises from a mutation of the gene that codes for dystrophin, a protein supports muscle structure by anchoring the cytoskeleton of muscle cells with their cytoplasm, the sarcolemma.

Mutations of dystrophin affect various biological pathways causing the hallmark symptoms of Duchenne muscular dystrophy: compromised cells membrane integrity, aberrant calcium homeostasis, chronic inflammation, fibrosis, and impaired tissue remodeling.

The sphingolipid connection

Discovered in 1870 and named after the famous Sphinx, sphingolipids are a group of bioactive lipids thought to be involved in cell signaling, and, surprisingly, many of the symptoms present in DMD. Therefore, the researchers asked whether the synthesis of sphingolipids can be altered in DMD — and if so, if they can be causally involved in the pathogenesis of DMD. To answer this, the researchers studied a mouse model of muscular dystrophy.

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Materials provided by Ecole Polytechnique Federale de Lausanne. Original written by Nik Papageorgiou. Note: Content may be edited for style and length.