• Science Saturday: Across time, place to find cures for inherited heart diseases

Pictured here are human cardiomyocytes (red) with the cell nuclei (blue) and granules (green).

Five years ago, Jay Schneider, M.D., Ph.D., was running a lab at The University of Texas Southwestern Medical Center in Dallas. The lab focused on researching cures for the genetic muscular-wasting disorder, Duchenne muscular dystrophy. His wife, Alice Chang, M.D., had accepted an offer to work at Mayo Clinic in Rochester, Minnesota, two years before. The family was split between the Lone Star State and the Land of 10,000 Lakes, meaning Dr. Schneider spent many weekends traveling to be with his family in downtown Rochester.

While attending a conference, Dr. Schneider struck up a conversation with Timothy Nelson, M.D., Ph.D., a Mayo Clinic cardiologist who studies congenital heart disease. Dr. Nelson presented at the conference on a gene-edited pig model his team used to study a rare congenital — meaning present from birth — heart mutation. One thing led to another and Dr. Schneider accepted Dr. Nelson's invitation to take a sabbatical from his Texas lab and came to Mayo Clinic. Also, despite focusing on a different disease area, Dr. Schneider thought he had a clue about what might be going wrong in the heart failure patients.

While most researchers are funded to find answers to a specific question, research teams are always open to how their findings might be applied in other fields of study. That's what happened when Mayo Clinic researchers investigating heart disease discovered previously unknown cellular changes in heart tissue. They pivoted to investigate how it applied to neurodegenerative disease research. At Mayo Clinic, it's a no-brainer ― diverse teams find cures faster for patients most in need.

Heart Disease Across Time

A decade ago, Timothy Olson, M.D., a Mayo Clinic cardiologist, studied a form of heart failure called dilated cardiomyopathy. The disease makes it harder for the heart muscle to pump blood to the rest of the body. Using gene sequencing, Dr. Olson traced the disease to a genetic mutation on a gene called RBM20, which was a surprise at the time, Dr. Schneider says. Heart failure was thought to be related to genes for proteins that helped the heart contract. After all, failure to do so was the hallmark of the disease. But RBM20 created a different type of protein called a regulatory protein.

"RBM20 is a protein that links to RNA, the messenger code in the cells, and regulates where it is cut. In turn, this splicing regulates exactly what proteins are made," Dr. Schneider explains. "To put it simply, RBM20 interprets differently the blueprint for building proteins, which affects everything in the cell and leads to a new mechanism of disease."

Read the rest of the article on Discovery's Edge.


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