Scientists have discovered an irreversible process in the human heart

A research team led by Sangita Chowdhury and August Yue Huang from the Department of Genetics and

genomics Boston Children's Hospital,sequenced the complete genomes of 56 single cells, known as cardiomyocytes, from 12 people who died at various ages (from infancy to 82) from causes unrelated to heart disease.

Using methods of bioinformatics and analysis,the team compared the number of uninherited mutations, known as somatic mutations, in cells of different ages, and also looked for mutational patterns that could shed light on the mechanisms of heart disease. This is the first study in which somatic mutations have been studied in the human heart at the single-cell level.

The older the cells were, the more single-letterchanges (single nucleotide variants) they had in their DNA. The nature of these mutations suggested that many of them were caused by oxidative damage. The mutations also affected the pathways that cells normally use to repair DNA damage, making the whole process irreversible.

Typically, cells that do not continuedivide, for example, heart cells are less susceptible to mutations. It has been found that cardiomyocytes accumulate mutations as quickly or even faster than some types of dividing cells. The researchers calculated that, on average, there are more than 100 new mutations per cell per year. “It turns out that heart cells accumulate mutations three times faster than neurons, another type of cell that doesn’t divide,” Yue Huang said.

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