A researcher at the University of Tennessee Health Science Center (UTHSC) has received a grant to study the role of genetics in fetal alcohol syndrome. Kristin Hamre, PhD, assistant professor in the Department of Anatomy and Neurobiology in the College of Medicine at UTHSC, will receive approximately $1.5 million over five years from the National Institutes of Health for her project titled “Maternal genotype, choline intervention, and epigenetics in Fetal Alcohol Syndrome.”
It is widely known that alcohol should not be consumed during pregnancy, Dr. Hamre said. Many women, however, consume alcohol before they realize they are pregnant. Binge drinking in college can be associated with unplanned pregnancies, she said.
The effects of this alcohol consumption by pregnant women on their babies vary greatly, with genetics – both the genetics of the mother and of the child – playing a key role. Dr. Hamre and her team are working to find out more.
“Women who drink ethanol during pregnancy oftentimes have children who show very different types or levels of effects due to the ethanol,” she said. (Ethanol is the type of alcohol found in alcoholic beverages.) “Some children will have fetal alcohol syndrome; some will be much less severely affected. So there have to be factors that are contributing to the different sensitivity.
“The purpose of this study is to evaluate the role of genetics. Animal models, and to a lesser extent, human studies have shown that genetics are likely to be impacting the severity of the deficits that we see from alcohol exposure.”
Looking at mouse models, the study will use cell death in the developing neural tube in an embryo as a marker of the effects of alcohol exposure. The neural tube goes on to become the brain and spinal cord, so cell death in the neural tube early in pregnancy due to alcohol exposure can lead to deleterious effects, Dr. Hamre said.
The second phase of the study will focus on choline, an essential nutrient often classified with B-complex vitamins. Choline is given to those children whose mothers have consumed alcohol during pregnancy as a means to lessen some of alcohol’s harmful effects. There is, however, no consensus on the dose, Dr. Hamre said.
“We’re trying to learn if the genotype of the mother or of the fetus impacts how successful choline will be, and what the optimal dose might be.”
The study’s third and final phase involves epigenetics, defined as changes in gene expression that occur without changes in the DNA. Epigenetics is the way in which environmental factors, such as stress, can change how genes are expressed across generations. This is a complex process accomplished by a number of mechanisms. Again, the focus will be on the role played by epigenetics in predicting the type and severity of fetal alcohol syndrome.
Co-investigators at UTHSC include Lu Lu, MD, professor in the Department of Anatomy and Neurobiology, and Bob Moore II, PhD, professor in the Department of Pharmaceutical Sciences. Additional investigators in the project are Drs. Daniel Goldowitz and Michael Kobor at the University of British Columbia.