Newly discovered gene mutations promote cardiomyopathy
Idiopathic dilated cardiomyopathy, a weakening of the heart muscle that leads to heart failure, is often inherited, though the exact genes that are to blame have been difficult to pinpoint. A team from the Intermountain Healthcare Heart Institute in Salt Lake City has identified eight new mutations in the gene TNN that they believe contribute to the disease.
TNN makes a large protein that contributes to the elasticity of heart muscle. But when the gene is mutated, the protein is shortened and unable to function properly. The researchers believe that the enhanced understanding of the heritability of the disease will help physicians better identify who’s at risk, so treatment and prevention measures can begin earlier. They reported the findings at the American College of Cardiology's Annual Scientific Session in New Orleans. (Release)
Treating resistant breast cancer by targeting an enzyme
Scientists at the University of North Carolina School of Medicine and Lineberger Comprehensive Cancer Center have discovered that the enzyme USP21 promotes the growth of basal-like breast cancer, a subtype of the disease that’s aggressive and difficult to treat. They made the discovery by focusing on FOX1, a protein that’s found in high quantities in basal-like breast tumors and that’s crucial for the proliferation of cancer cells.
The researchers found that when USP21 is present in high quantities, it protects FOX1, and that when they depleted the enzyme, the progression of cancer cell cycle progression was significantly delayed. They believe drugs that inhibit USP21 could prove useful in fighting the disease, they reported in the journal Cell Reports. (Release)
Minimizing brain damage after stroke
Researchers led by the University of British Columbia have shown they can minimize brain damage in mouse models of stroke by blocking “hemichannels,” chemical pathways in the brain that can leak, causing harmful inflammation. They did it by mutating proteins called connexins, which in turn prevented the formation of hemichannels.
They also used a drug called Gap19 to block the hemichannels. This limited the amount of stroke damage that occurred, as reported in the Journal of Experimental Medicine. (Release)