gene mutation tagged posts

Gene Mutation Reduces Risk of Heart Attack by 50%

People with a specific gene mutation have a 50 percent lower risk of suffering a heart attack. This is what an international team of researchers headed by the cardiologist Prof. Heribert Schunkert, medical director of the German Heart Center at the Technical University of Munich (TUM), discovered in a broad comparative study. If this gene were switched off with medications it could reduce the risk of coronary disease significantly. Credit: Jeanette Erdmann / University of Luebeck / New England Journal of Medicine

People with a specific gene mutation have a 50 percent lower risk of suffering a heart attack. This is what an international team of researchers headed by the cardiologist Prof. Heribert Schunkert, medical director of the German Heart Center at the Technical University of Munich (TUM), discovered in a broad comparative study. If this gene were switched off with medications it could reduce the risk of coronary disease significantly. Credit: Jeanette Erdmann / University of Luebeck / New England Journal of Medicine

Shutting down a gene via meds may reduce heart attack risk. An international research group headed by cardiologist Prof...

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Jammed up Cellular Highways may initiate Dementia and ALS

Neurons, red, created from ALS patients bearing the C9orf72 mutation, show clumps of the RanGAP protein, yellow, in their nuclei, white. The nuclei of other cells are in blue. Credit: Jeffrey Rothstein laboratory, Johns Hopkins Medicine

Neurons, red, created from ALS patients bearing the C9orf72 mutation, show clumps of the RanGAP protein, yellow, in their nuclei, white. The nuclei of other cells are in blue.
Credit: Jeffrey Rothstein laboratory, Johns Hopkins Medicine

The 1st steps in how a common gene mutation causes brain damage associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) have been found by Johns Hopkins researchers. Altered C9orf72 gene on human chromosome 9, causes RNA molecules to block critical pathways for protein transport, causing a molecular traffic jam outside brain cell nuclei and affecting their operations and survival. In a proof-of-concept experiment, a molecular therapy eased the jam and restored molecular flow into the cell’s core.

The mutation, the most comm...

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