18 July 2022

Polyploidy and cardiomyopathy

RAS scientists have linked the development of age-related heart diseases with polyploidy

INC Press Service

Researchers of the Institute of Cytology (INC) RAS proved that polyploidy, which occurred in the muscle cells of a child, increases the risk of developing cardiovascular diseases in adulthood. The results of the study are published in the International Journal of Molecular Sciences (Anatskaya et al., Polyploidy as a Fundamental Phenomenon in Evolution, Development, Adaptation and Diseases).

Polyploidy is a process that occurs in plant and mammalian cells when, due to a number of stress factors, the number of chromosomes in one cell increases by two or more times. Despite the risk of developing cardiovascular diseases, polyploidy has become one of the most important factors of evolution, thanks to which new species have occurred.

Polyploidy.jpg

The studies that contributed to the new discovery were conducted on animals. Scientists created stressful situations that caused an increase in the number of chromosomes of heart muscle cells. They were premature birth and systemic inflammatory stress. As a result of the experiment, excessive polyploidization was observed in experimental animals, which led to cardiomyopathy in adulthood.

Scientists explain the ontogenetic programming during the experiment for two reasons. Firstly, polyploidy changes the properties of cells through epigenetic regulation of gene expression. This process leads to a change in the activity of the gene. Secondly, there is no renewal of muscle cells in the heart, which is why polyploidy is irreversible.

 "In our work, we wanted to show that polyploidy is a fundamental phenomenon. <...> This phenomenon implies a relationship between adverse effects in early postnatal development (immediately after birth) and the occurrence of diseases after a long period of time (already in adults). In other words, these are hidden genetic and epigenetic defects in the development of the body that arise as a result of stress. In particular, these can be functional stresses — increased load on the organ during growth, starvation, inflammatory processes, immunodeficiency and others," says Alexander Vinogradov, head of the bioinformatics and functional genomics group of the INC RAS.

The study of polyploidy has become an important task for understanding cancer, metastasis and resistance to therapy. In the future, the specialists of the INC RAS will continue to study the mechanisms of the influence of polyploidy on gene expression.

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