Johns Hopkins researchers report that the level, or “copy number,” of mitochondrial DNA—genetic information stored not in a cell’s nucleus but in the body’s energy-creating mitochondria—is a novel and distinct biomarker that is able to predict the risk of heart attacks and sudden cardiac deaths a decade or more before they happen. In the future, testing blood for this genetic information could not only help physicians more accurately predict a risk for life-threatening cardiac events, but also inform decisions to begin—or avoid—treatment with statins and other drugs.
Johns Hopkins physicians report success in a small study of a modified skin biopsy that hastens the earlier diagnosis of an inherited and progressively fatal nerve disease and seems to offer a clearer view of the disorder’s severity and progression. With a quicker and less invasive way to visualize the hallmark protein clumps of the rare but lethal disease — familial transthyretin amyloidosis — the researchers say they hope to more rapidly advance clinical trials of treatments that may slow the disease and extend patients’ lives.
A study of more than 80,000 women with heart disease from 2003 to 2012 reveals that the prevalence of women with heart disease delivering babies increased by 24 percent over that 10-year period.
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Working with mouse, fly and human cells and tissue, Johns Hopkins researchers report new evidence that disruptions in the movement of cellular materials in and out of a cell’s control center — the nucleus — appear to be a direct cause of brain cell death in Huntington’s disease, an inherited adult neurodegenerative disorder.
In experiments with a protein called Ephexin5 that appears to be elevated in the brain cells of Alzheimer’s disease patients and mouse models of the disease, Johns Hopkins researchers say removing it prevents animals from developing Alzheimer’s characteristic memory losses. In a report on the studies, published online March 27 in The Journal of Clinical Investigation, the researchers say the findings could eventually advance development of drugs that target Ephexin5 to prevent or treat symptoms of the disorder.
Physicians at the Johns Hopkins Kimmel Cancer Center report they have successfully treated 16 patients with a rare and lethal form of bone marrow failure called severe