Drug treats inflammation associated with genetic heart disease

When young athletes experiences sudden cardiac death as they run down the playing field, it's usually due to arrhythmogenic cardiomyopathy (ACM), an inherited heart disease. Now, researchers have shed new light on the role of the immune system in the progression of ACM and, in the process, discovered a new drug that might help prevent ACM disease symptoms and progression to heart failure in some patients.

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Why some US football players have higher cardiovascular risk

Research has shown that while elite athletes overall are at decreased risk of death from cardiovascular problems, a certain group of athletes — football linemen in the United States — actually have higher risk than the general population than other elite athletes.

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Failure of mitochondrial quality control causes heart disease

Mutations in the gene that encodes a protein called ANT cause a variety of conditions, such as heart disease, but the underlying mechanism of how these mutations trigger disease has been unclear. Researchers discovered that ANT is critical for a quality control process called mitophagy — which helps to ensure the integrity of the mitochondria network — and found that mutations that lead to a defective quality control system cause heart disease.

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Diabetes: A next-generation therapy soon available?

Insulin is normally produced by pancreatic beta cells. In many people with diabetes, pancreatic cells are not functional, causing a chronic and potentially fatal insulin deficiency that can only be controlled through daily insulin injections. However, this approach has serious adverse effects. In order to improve therapy, researchers have identified a protein called S100A9 which seems to act as a blood sugar and lipid regulator while avoiding the most harmful side effects of insulin.

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Protein misfolding as a risk marker for Alzheimer's disease

In symptom-free individuals, the detection of misfolded amyloid-beta protein in the blood indicated a considerably higher risk of Alzheimer's disease — up to 14 years before a clinical diagnosis was made. Amyloid-beta folding proved to be superior to other risk markers evaluated.

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Gene mutation in the chloride channel triggers rare high blood pressure syndrome

When the adrenal gland produces too much aldosterone, this often leads to high blood pressure and kidney damage (hyperaldosteronism). It has only recently emerged that several patients harbor a mutation in the gene for the ClC-2 chloride channel. Researchers have now been able to show for the first time how the altered channels cause the disease.

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