Study Finds Blocking Sphingolipids Counteracts Muscular Dystrophy in Mice Models

According to a recent article, a research team discovered that the inhibition of sphingolipid synthesis on mice models of Duchenne muscular dystrophy can counteract the certain symptoms of the disease.

Duchenne Muscular Dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is one of nine forms of muscular dystrophy. Patients with DMD cannot make dystrophin in their muscles causing muscle weakness, eventually resulting in heart and respiratory weaknesses and quadriplegia.

Worldwide, DMD occurs in one per 3,500 male births and only one in approximately 50 million female births.


DMD symptoms usually manifest before the age of six. DMD symptoms include:

  • Muscle weakness beginning in the legs, pelvis and thighs, progressing to the rest of the body
  • Motor skills difficulty
  • Frequent falling
  • Difficulty moving positions
  • Difficulty walking
  • Fatigue
  • Learning disabilities and low IQ
  • Progression to heart disease and respiratory failure

Finding the Connection

The analysis was done by a research team at the École Polytechnique fédérale de Lausanne (EPFL) School of Life Sciences. They looked at a public dataset of patients with various forms of muscular dystrophy to find an increase of sphingolipid biosynthetic enzymes in muscle biopsies in patients diagnosed with muscular dystrophy.

Sphingolipids are bioactive lipids that are a part of cell signaling and a number of the symptoms of DMD. Due to this, researchers began to ponder whether the synthesis of sphingolipids can be altered in DMD.

The team then proved this connection through two in vivo experiments on mice. They used mdx mice since they carry a point mutation in the DMD gene. These experiments showed the pharmacological inhibition of sphingolipid synthesis in the mice models of DMD improved loss of muscle function and other symptoms that come with the disease.


The team concluded that correcting the abnormal sphingolipid metabolism leads to a number of benefits such as delaying the onset of symptoms, slowing disease progression, and reversing the loss of muscle function.

The research team recommended next steps of developing novel inhibitors of the sphingolipid synthesis pathway, whether this be alone or in addition to treatments that already exist.

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