Epigenetics is the study of hereditary changes in appearance or gene expression that are not caused by changes in DNA. Epi is Greek for over or above so epigenetics means looking at changes that are beyond genetics. These changes can remain for the rest of a cell’s life and it is possible for them to last for several generations. Yet the organism’s underlying DNA sequence remains unchanged. Factors outside of genetics cause the organism’s genes to express themselves in a different way.

A good example of epigenetics is the Överkalix study by Marcus Pembrey. He identified significant epigenetic changes in the paternal (but not maternal) grandsons of Swedish men who had experienced famine during childhood in the 19th century. These grandsons were found to be less likely to die of cardiovascular disease, but if they had a lot of food they were more likely to die of diabetes. This suggests the inheritance across the generations was epigenetic. In women Pembrey also noticed changes: The paternal (but again not maternal) granddaughters of females who had experienced famine in the womb, which is when their eggs would have been formed, died at a younger age.

Epigenetics affects cancer as some substances are considered to be epigenetic carcinogens. This means they cause a higher rate of tumors but they do not show up as mutations in DNA structures. Such substances include diethylstilbestrol, or DES, a man-made estrogen that was mistakenly given to pregnant women from 1940 to 1970 to avoid miscarriage. Women whose mothers had taken DES presented a higher incidence of particular tumors.

Further information on the relevance of epigenetics in treating cancer is on our Publications & Research page.

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