Researchers shed Light on Role of DNA Damage in Inherited Diseases


There has been considerable study on exploring the relationship between mutations caused by mutagens and development of cancer tumor. The role of errors DNA doubling in mutations has long been established by scientific research.However, the role of DNA damage leading to mutations in healthy cells,especially human germ line mutation, has been not fully understood yet. An international team of scientists took a closer look at the link between number of cell divisions, precisely cell doublings, and accumulated mutations. They conducted several experiments with different cell samples to test the hypothesis whether DNA damage plays a crucial role in inheritance mutations, one of thekey causes of genetic diseases. The findings suggest that large numbers of inheritance mutations are caused by DNA damage rather than errors in DNA copying or cell doublings, which had been previously assumed. The researchers further found that known mutagens led to cancer only if they affected the cell just before the division process starts, that is, in actively dividing cells.

Though the hypothesis was found to be statistically true, the results are only suggestive and more new approaches are needed to confirm the role of such DNA damage to mutagenesis, stated one of the authors. The details of the study are published online in the journal Nature Genetics on December 3, 2018.      

New Approach for understanding Cell Repair System Mechanism in Cancer Mutations 

The researchers with the aim of estimating the number of cell mutations caused by DNA damage adopted a completely new perspective and looked at rarest type of mutations. This helped them to get an idea about how cell repair system functions on the DNA strands. When cancer tumor develops, notably in liver cancer and lung cancer, the scientists found that DNA damage majorly affects lagging chains rather than in actively dividing cells. The damage becomes a source of source of germ line mutations

The findings are likely to pave way to a new avenue in understanding the role of mutations in cancer and hereditary diseases.