Epigenetics and developmental epigenetics are fields of scientific study that look at how factors inside and outside the body cause changes in gene function without changing the sequence of the nucleotides (pronounced NOO-klee-uh-tahydz), that make up a person’s DNA.1Epigenetic gene changes are different from gene mutations (pronounced myoo-TEY-shuhnz), which change genes by changing the sequence of DNA nucleotides. Epigenetic changes are chemical reactions that alter how hard or easy it is for the DNA to be read and translated for making proteins essential for cells to function.
Many epigenetic changes occur naturally, as part of normal development and aging. Others occur in response to factors outside the body, such as diet, chemicals, medicines, drugs, exercise, and stress. Scientists refer to these factors as environmental factors. Epigenetic gene changes can increase or decrease the risk of developing certain diseases and health conditions.
Developmental epigenetics looks at the health and developmental effects of epigenetic changes to DNA over the course of a lifespan. These changes can occur at any point during life—in a developing fetus, during childhood, in the germ cells (sperm or eggs) of a man or woman just before conception and pregnancy, or at several other critical periods in a person’s life. Epigenetic changes to germ cells can affect fertility, or they can affect certain genes in a developing fetus. Some epigenetic changes to germ cells can lead to children being born with certain developmental disorders.
One area of developmental epigenetics studied by the NICHD is the epigenetic contributions to developmental disorders such as Angelman syndrome, Prader-Willi syndrome, and Rett syndrome.
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