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«Myocardial infarction mutations» have been found in the DNA of the mitochondria

Researchers from the Institute of General Pathology and Pathophysiology, the National Medical Research Centre for Cardiology, the Southern Federal University, and the Skolkovo Innovation Centre have found 11 variants of mutations associated with an increased risk of atherosclerosis and 3 variants associated with increased or, conversely, decreased probability of myocardial infarction, in the mitochondrial DNA.
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The study involved 225 patients with myocardial infarction and 239 people without cardiovascular disease.

A section of DNA in which a genetic risk factor for infarction was found encodes one of the proteins required for mitochondria to generate energy. It appears that the mutation in the DNA section reduces the energy efficiency of the fibres of the heart muscle, and that is why the fibres are more sensitive than normal to malnutrition, a consequence of ischemic disease. Meanwhile, single nucleotide polymorphisms, presumably protecting the heart from a heart attack, were, in previous works of other authors, associated with numerous pathological conditions, such as: muscle weakness, the presence of myoglobin protein in the urine, and so on. This fact has not been explained yet.

The authors hope that the data they obtained will facilitate early diagnosis of infarction or help create new experimental models of the disease. A scientific article was published in the journal Disease Markers. The study was supported by a grant from the Russian Science Foundation (RSF).

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