Muscular Dystrophy Mutations Leave Cells Short of "Packing Peanuts"
Emery-Dreifuss muscular dystrophy (EDMD) is a devastating genetic disease that causes progressive muscle weakness and wasting. EDMD is caused by mutations in proteins within the nuclear envelope, yet the disease disrupts the organization and function of entire muscle cells. A new study by UC Davis researchers reveals one mechanism that may explain this connection.
By tracking the movement of fluorescent nanoparticles inside worms with EDMD-associated genetic mutations, the researchers discovered that cells carrying these mutations contain far fewer ribosomes than usual. Without enough ribosomes, the interior of the cell becomes unusually sparse, which alters how molecules move and ultimately disrupts the cell’s organization.
The team showed that they could ramp up ribosome production in the mutant worms by genetically activating the mTOR pathway, a regulator of cell growth, pointing to a potential avenue for developing therapies to treat EDMD in people. Their findings are published in Science Advances.