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April 2, 2015

Research Notes

Researchers identify genes for congenital heart disease

Fetal ultrasound exams on more than 87,000 mice exposed to chemicals that can induce random gene mutations enabled researchers at the School of Medicine to identify mutations associated with congenital heart disease in 61 genes, many not previously known to cause the disease.

The study, published online in Nature, indicates that the antenna-like cellular structures called cilia play a critical role in the development of these heart defects.

The findings are the culmination of an effort to find the genetic determinants of structural heart disease in the “Bench to Bassinet” program, launched six years ago by the National Heart, Lung and Blood Institute (NHLBI), part of the National Institutes of Health (NIH), led at Pitt by principal investigator Cecilia Lo, chair of the Department of Developmental Biology.

Said Lo: “This project has given us new insights into the biological pathways involved in development of the heart. The genes and pathways identified in our study will have clinical importance for interrogating the genetic causes of congenital heart disease in patients.”

For the study, Lo’s team mated mice exposed to chemicals that could create random genetic mutations, resulting in 87,355 pregnancies. They scanned each fetus using noninvasive ultrasound and recovered over 3,000 independent cases of congenital heart defects, all incompatible with life. They sequenced the genes of mutant animals and compared them to those of unaffected offspring to identify 91 recessive mutations in 61 genes.

“We were surprised to learn many of these genes were related to the cilia, or cilia-transduced cell signaling,” Lo said.

“These findings suggest cilia play a central role in the regulation of heart development, including patterning left-right asymmetry in the cardiovascular system critical for efficient oxygenation of blood.”

She added that pathways recovered in the mouse study show overlap with those associated with de novo, or spontaneous, mutations identified in congenital heart disease patients.

Co-investigators on the project included other researchers from Pitt, the University of Massachusetts, the Jackson Laboratory and Children’s National Medical Center.

The project was funded by the NHLBI, the National Institute of Mental Health, the National Human Genome Research Institute and the School of Medicine.

Infant airway occlusion studied

Pharmacy faculty member Kerry M. Empey has received a grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development of NIH.

The goal of her proposal is to determine if infant alveolar macrophages are responsible for the accumulation of mucus and cellular debris and the mechanism by which IFNg enhances resolution of this debris.

Airway occlusion is a hallmark of severe infant respiratory syncytial virus (RSV) infection due to the accumulation of cellular debris and mucus and contributes to significant morbidity and mortality. Alveolar macrophages are largely responsible for clearing cellular debris and mucus, suggesting that alveolar macrophages may be impaired in infants with severe RSV infection.

IFNg, is an anti-viral cytokine shown to correlate with reduced disease severity. However, it remains unclear whether its beneficial effects in RSV disease are related to reductions in mucus production or cellular debris.

Education faculty member gets research award

School of Education faculty member Ming-Te Wang has received a 2015 Early Career Research Award from the Society for Research in Child Development.

Wang’s research interests center on the development and testing of broader theoretical models of the relationship between contextual and psychological factors and child development and use mixed methods designed to evaluate complex developmental pathways from childhood to adolescence.

Interdisciplinary gender/violence research funded

School of Social Work faculty members Rachel Fusco and Sara Goodkind received funding through the provost’s Integrative Social Science Research Initiative for their project titled “Developing Interdisciplinary Collaborations in Gender and Violence Research.”

They will collaborate with partners across campus to build the University’s capacity to conduct research on issues of gender and violence, including faculty members Kathleen Blee and Lisa Brush from the Department of Sociology in the Dietrich School of Arts and Sciences, Liz Miller from the School of Medicine, Muge Finkel from the Graduate School of Public and International Affairs and Elena Baylis from the law school.

Said Goodkind: “As this range of disciplinary and departmental homes suggests, there are a number of people across campus working in the area of gender and violence, but there has not been a forum to bring us together. Moreover, there are scholars on campus who work on violence without taking a gendered perspective. A broader community would foster dialogue about how collaboration might encourage and sustain new frames, innovative questions and creative research.”

The initiative, she said, would “build new research teams, develop new capacity for research training, and establish and strengthen connections with community-based partners in practice and policy.”

—Compiled by Marty Levine


The University Times Research Notes column reports on funding awarded to Pitt researchers as well as findings arising from University research.

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