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Researchers discover how genes and diet interact to cause birth defects

Published on August 8, 2006 at 4:15 PM · No Comments

Expectant mothers may someday get a personalized menu of foods to eat during pregnancy to complement their genetic makeup as a result of new research at Washington University School of Medicine in St. Louis.

Researchers used transparent fish embryos to develop a way to discover how genes and diet interact to cause birth defects.

"By the time most women know they are pregnant, the development of the fetus' organs is essentially complete," said Bryce Mendelsohn, co-author and an M.D./Ph.D. student in the Medical Scientist Training Program at Washington University School of Medicine. "Since we currently do not understand the interaction between genetics and nutrition, the goal of this research was to understand how the lack of a specific nutrient, in this case copper, interacts with an embryo's genetics during early development."

Mendelsohn is doing the research in the laboratory of Jonathan D. Gitlin, M.D., the Helene B. Roberson Professor of Pediatrics at Washington University School of Medicine, director of genetics and genomic medicine at St. Louis Children's Hospital and scientific director of the Children's Discovery Institute.

Mendelsohn and collaborators Stephen L. Johnson, Ph.D., associate professor of genetics at the School of Medicine, and graduate student Chunyue Yin, working with Lila Solnica-Krezel, associate professor of biology at Vanderbilt University, studied the impact of copper metabolism on the development of zebrafish, a vertebrate that develops similarly to humans. Zebrafish have become staples of genetic research because the transparent embryos grow outside of the mother's body, which allows development to be easily observed. The study's results appear in the August issue of Cell Metabolism.

Using techniques designed to get to the core of how the body processes copper, the researchers identified a gene in zebrafish responsible for copper metabolism, called atp7a. They found that variants of the atp7a gene led to the abnormal metabolism of copper, which resulted in impaired development of the fish's notochord, similar to the spine in humans.

In humans, copper is found in all body tissues and is critical for maintaining stable iron levels, connective tissue formation, nerve cell function in the brain, hormone production and pigmentation. The trace metal is commonly found in shellfish, nuts, chocolate and liver.

"Whether a zebrafish embryo has enough copper to develop normally depends not only on the total amount of copper, but on how well this gene functions," Mendelsohn said.

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