New Cornell-led research has found a strong connection between DNA damage triggered by mutations in proteins that surround the cell nucleus, known as lamins, and muscular dystrophy.
New Cornell-led research has found a strong connection between DNA damage triggered by mutations in proteins that surround the cell nucleus, known as lamins, and muscular dystrophy. By exploring the mechanisms that cause the damage, the researchers are hopeful their discovery can help shape better treatments.
The team’s paper, “Mutant Lamins Cause Nuclear Envelope Rupture and DNA Damage in Skeletal Muscle Cells,” was published Dec. 16 in Nature Materials.
The vast majority of muscular dystrophy cases are caused by mutations in dystrophin proteins, which sit at the surface of muscle cells and, when healthy, hold the cells together. Jan Lammerding, associate professor in the Meinig School of Biomedical Engineering, has long looked to the thin membrane, called the nuclear envelope, that surrounds the cell nucleus to understand how it, too, can cause certain forms of muscular dystrophy when components of it are mutated – specifically in muscle cells, which are sensitive to mechanical stress.
“There are more than 500 different mutations that have been identified that cause different diseases,” said Lammerding, the paper’s senior author. “Even though these proteins are expressed in all cells in the human body, most of the mutations cause only muscle disease. So it’s always been a mystery: Why is it that only muscle cells show defects while, for example, the brain, the liver and other tissues that also have the mutant proteins do not show any defects?”
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