World news – AU – the cellular pathway of hereditary heart disease is similar to neurodegenerative disease

Washington [USA], Nov.19 (ANI): Recent research on inherited heart disease has uncovered a new and unexpected mechanism for cardiac arrest. This historic finding found an association between clumping of RNA-related proteins long associated with neurodegenerative disease and protein clusters present in the cardiac tissues of patients with RBM20. Dilation of the heart muscle is a disease of the heart muscle that makes it difficult for the heart to pump blood to the rest of the body. A decade ago, Timothy Olson, M.. Dr. , A pediatric cardiologist at Mayo Clinic, tracked disease to a genetic mutation in a gene called RBM20. Unlike most heart diseases, this type of cardiomyopathy can affect patients early in adulthood, and they are at particular risk of sudden cardiac death.. Over the past decade, heart failure in RBM20 cardiomyopathy has been attributed to abnormalities in the binding genes of the proteins that help the heart contract.. However, the new discovery finds another way that mutated RBM20 destroys cardiac muscle cells: through the accumulation of pathological nucleoprotein granules, which affect everything in cells and lead to a new form of the disease.. . Tim Nelson said: « It is important to realize that there are children and young adults with heart failure due to this subtle mutation. ». . Dr. , PhD. Dr. , Todd and Karen Wannick, director of the Hypoplastic Left Heart Syndrome Program at Mayo Clinic and lead author of the study. “We took these results back to the lab and developed cell cultures to test new therapies. The future of this research focuses on transferring discoveries outside the laboratory and into clinical trials to make new treatments available to our patients. This research is a very important motivational step to do so, ”Nelsom added. Through gene editing technology d. Nelson’s team produced the first large animal model showing all typical clinical signs and symptoms of human heart failure: a pig born with a human gene with dilated cardiomyopathy (RBM20). This model allowed them to study the development of an animal’s heart disease within months. The disease takes 20 years or more to develop in humans. A simple staining test performed on pig heart tissue samples detected clumps full of RNA-binding protein. Tissue samples archived from Dr.. This finding confirmed the tissues of Olson’s RBM20 dilated cardiomyopathy. It was also dipped in the same protein granules. This supports a new concept that other than splicing caused by a gene mutation, RBM20 is an RNA-related protein granulomatous disease similar to diseases such as Lou Gehrig’s disease or amyotrophic lateral sclerosis and Alzheimer’s disease. “To my knowledge, this overload of protein granules in cells was only previously seen in the brain or spinal cord, and some very rare skeletal muscle diseases.. Now we found it in the heart, which is a large organ that is much easier to study than spinal neurons or brain tissue, « said Jay Schneider, M.. . Dr. , PhD. Dr. , A cardiologist at Mayo Clinic and first author of the study. Most importantly, we can study and develop treatments to prevent the accumulation of these toxic granules early in life instead of waiting 50 years or more for the degenerative disease to emerge clinically.. Schneider added that this is a major advantage that should accelerate the discovery of drugs in degenerative diseases of protein and glioprotein granules of the heart and nervous system.. (ANI)

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Heart failure, cardiovascular disease, and genetics