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Pinpointing specific cells may help thwart congenital heart disease, new research shows

heart-imageThe lab of Stanford's Sean Wu, MD, PhD, is working to identify mechanisms responsible for congenital heart disease, the most common cause of stillbirths in the U.S. and one of the major contributors to morbidity and mortality in infants and toddlers. Wu and his colleagues have created an atlas of cells in the embryonic heart that can be used to pinpoint exactly where diseased cells originated from.

"Our atlas of cardiac cells provides a blue print to find the rare population of diseased cells in experimental models of congenital heart disease," Wu, an associate professor of cardiovascular medicine and senior author of the study, told me. "This could enable the development of new strategies to prevent congenital heart disease or treat it while in utero."

In this study, appearing today in Developmental Cell, Wu and colleagues examined more than 2,200 embryonic mouse heart cells for the study. Using genome-wide expression profiling in single cells, a technique that was invented in the lab of co-author Stephen Quake, PhD, a professor of bioengineering and of applied physics and co-president of the Chan Zuckerberg Biohub, they were able to partition an embryonic heart into 17 distinct subpopulations based on cell type and anatomical location. “This is analogous to providing a unique 'address code' for where each individual cell should be located in the developing heart,” said Wu.

Wu continued: "We then developed a bioinformatic algorithm that allows any scientist to take their own genome-wide expression data from a single heart cell and plug that information into the algorithm that we developed and we can tell the scientist what part of the heart their cells come from."

Wu said that this information could lead to finding the rare cells with defective gene expression that are the initiators of specific types of congenital heart diseases such as tetrology of Fallot or hypoplastic left heart syndrome — both birth defects that change the normal flow of blood through the heart.

"Knowing this, scientists can then focus on the changes in gene expression in those cells and develop targeted drug therapy for correcting the defective gene expression," Wu said.

Wu also noted that "being able to catalog all the different cell expressions at various stages is the next big step after sequencing of the human genome. The same approach that we developed could be used to profile individual cells from any organ of interest, not just the heart."

Previously: How does a heart defect start: Stanford scientists use stem cells to find outStanford part of new Chan-Zuckerberg biohub and Cheaper faster way to find genetic defects in heart patients
Photo by Katy Treseder

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