Cellular pathway of genetic heart disease similar to neurodegenerative disease

cellular pathway of genetic heart disease similar to neurodegenerative disease

Sumary of Cellular pathway of genetic heart disease similar to neurodegenerative disease:

  • This landmark discovery found a correlation between the clumping of RNA-binding proteins — long linked to neurodegenerative disease — and the aggregates of protein found in the heart tissue of patients with RBM20 dilated cardiomyopathy..
  • Dilated cardiomyopathy is a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body..
  • A decade ago, Timothy Olson, M.D., a pediatric cardiologist at Mayo Clinic, traced the disease to a genetic mutation in a gene called RBM20..
  • Unlike most heart disease, this form of cardiomyopathy can affect patients as early as young adulthood, and they are at particularly high risk for sudden cardiac death..
  • For the past decade, heart failure in RBM20 cardiomyopathy was attributed to abnormalities in the splicing of genes for proteins that help the heart contract..
  • “It’s important to realize that there are kids and young adults that have heart failure because of this exact mutation,”.
  • says Tim Nelson, M.D., Ph.D., director of Mayo Clinic’s Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome and lead author of the study..
  • The future of this research is focused on moving discoveries out of the lab and into clinical trials to make new therapies available to our patients..
  • Through gene editing technology, Dr. Nelson’s team produced the first large animal model displaying all the typical clinical signs and symptoms of human heart failure:.
  • A simple staining test performed on the pig heart tissue samples discovered clumps full of RNA-binding protein..
  • Archived tissue samples from Dr. Olson’s RBM20 dilated cardiomyopathy human patient tissue confirmed this discovery….

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