Indiana State University Newsroom

Sycamores investigate genetics behind congenital heart defects

August 18, 2017

When Katy Neese and Olivia Sacopulos jumped into their research this summer, they did it with all heart -- mice hearts, that is.

Neese and Sacopulos used the Summer Undergraduate Research Experience at Indiana State University to conduct preliminary research on the Foxhead BOX (FOX) gene expression, which encodes transcription factor proteins that switch genes "on" or "off" as the heart forms. It's a critical process the body has to get right for proper heart development. But when some Forkhead genes are mutated or dysfunctional, they fail to produce proteins that can correctly turn on or off other genes. The result is a congenital heart defect.

The project by Neese and Sacopulos used two approaches: further analysis of previously published available gene expression microarray data and the collection of FOX gene expression analyses curated by genomic databases and published in scientific literature.

They charted their findings to see when and where FOX genes are expressed or unexpressed using the Mouse Genome Informatics Database as a primary resource for a spectrum of genetic, genomic and biological data, which archives bioinformatic and experimental data of the mouse as an experimental model system for understanding human biology and disease.

"The comparison of the curated gene expression databases validate the microarray dataset by identifying sever FOX genes with known expression during heart development," said Neese, a junior biology with a medical lab specialization major from Martinsville, Ind. "Several of the FOX genes that are significantly changed in the heart according to the microarray data set have not been characterized in using conventional gene expression analysis techniques."

Sacopulos curated a list of FOX genes, looking at all 44 of the genes and used the Mouse Genome Informatics database to see the expression of each gene during different stages of development. She found that 22 genes were expressed, 22 were undefined and 11 were not expressed and used the data to validate Neese's findings.

"My part involved coding and using the Bio conductor package to pull out the statistically significant FOX genes and create a heat map to show when the genes are expressed," said Socaphales, a junior biology major from Terre Haute. "If we can determine if heart defects are caused by the genes, there may be a way to correct the problem."

Their preliminary findings will ultimately aid Indiana State biology instructor Kristopher Schwab with his research on the FOX genes functions when cardiac muscular tissue is formed, particularly during embryonic development.

"Research exposes students to new areas of science, allowing them to explore the language, concepts and tools of research. Rather than just reading from a book, the research allowed them to get involved in the process and learn at a greater depth by going through data analysis, hypothesizing and investigating," Schwab said. "Once they have that basic skill set, that they can transfer to other areas of science and apply it."


Photo: - Katy Neese, junior biology with a medical lab specialization major from Martinsville, Ind., left, and Olivia Sacopulos, a junior biology major from Terre Haute, present the research they conducted during Indiana State University's Summer Undergraduate Research Experience on the FOX gene expression during mouse heart development.

Writer: Betsy Simon, media relations assistant director, Office of Communications and Marketing, Indiana State University, 812-237-7972 or