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What role do epigenetics & developmental epigenetics play in health & disease?

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Epigenetic factors (also known as epigenetic marks) control many of the normal functions of cells in our bodies.1 For example, epigenetic marks control how and when certain genes are turned on and off to help the body grow and develop.2

Sometimes, epigenetic marks cause certain genes to be turned on or off at different stages of the body’s growth and development in a way that leads to disease. For example, certain genes normally work to protect against cancer. Some epigenetic marks can turn these genes off, increasing the risk of cancer. Scientists still do not fully understand why certain epigenetic marks switch off the genes we need to stay healthy, or turn on genes that lead to disease.3

Some epigenetic marks may be passed on from parents to their children.2

Throughout a person’s life, epigenetic changes to genes build up, making it more or less likely over time that certain genes will switch on or off. The buildup of epigenetic changes is part of normal aging. However, this buildup may also increase the likelihood that certain genes will be changed in a way that leads a person to develop age-related diseases, such as cancer and diabetes.3

Many diseases are caused by a combination of different types of changes in many different genes. Some of these changes are genetic mutations that are passed along in families. Some are mutations that happen randomly or because of environmental factors. And some are epigenetic changes caused by environmental or other factors.

Many diseases and conditions are linked to epigenetic or developmental epigenetic changes. So far, scientists have been able to link the following diseases to epigenetics1,4,5:

It is important to note that the above list is only partial; almost any complex disease is likely to be caused, in part, by epigenetic changes. Scientists are just now starting to uncover the specific changes that contribute to all the various diseases.


  1. Simmons, D. (2008). Epigenetic influences and disease. Nature Education, 1(1). Retrieved July 24, 2012, from http://www.nature.com/scitable/topicpage/epigenetic-influences-and-disease-895 External Web Site Policy [top]
  2. National Institute of Neurological Disorders and Stroke. (2008). NIH announces new initiative in epigenomics [press release]. Retrieved July 24, 2012, from http://www.ninds.nih.gov/news_and_events/news_articles/pressrelease_New_Initiative_Epigenomics.htm [top]
  3. Aguilera, O., Fernández, A. F., Muñoz, A., & Fraga, M. F. (2010). Epigenetics and environment: A complex relationship. Journal of Applied Physiology, 109, 243-251. Retrieved July 24, 2012, from http://jap.physiology.org/content/109/1/243.full.pdf External Web Site Policy (PDF - 582 KB) [top]
  4. Beaudet, A. (2003y). The role of imprinting defects in Angelman syndrome, autism, and other disorders. Retrieved July 24, 2012, from http://www.nichd.nih.gov/about/meetings/2003/ppb_fetalgrowth/Documents/beaudet_pdf.pdf (PDF - 1.13 MB) [top]
  5. Egger, G., Liang, G., Aparicio, A., & Jones, P. A. (2004). Epigenetics in human disease and prospects for epigenetic therapy. Nature, 429, 457-463. [top]

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Last Updated Date: 11/30/2012
Last Reviewed Date: 10/28/2013
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology