Kidney research at the University of Virginia School associated with Medicine has unexpectedly led to a discovery about the development of the heart, including the identification of a gene responsible for the deadly cardiac condition.

UVA scientists were surprised to discover that the heart’s inner liner forms from the same stem cells, known as “precursor cellular material, ” that turn into blood. That means a single type of originate cell turns into both our blood and a portion of the particular organ that will pump it.

The scientists determined that a particular gene, S1P1, is vital for the appropriate formation of the heart. Without it, the heart tissue created by the precursor cells develops a sponginess that compromises the heart’s ability to contract tightly and pump bloodstream efficiently. In people, that is known as ventricular non-compaction cardiomyopathy, an unhealthy condition that often leads to early death.

“Many patients who suffer from untreatable chronic diseases, including center and kidney diseases, are in waiting lists for restricted organ transplantation. Therefore , there is an urgent need to understand what occurs the cells during disease and how can they be repaired, inch said researcher Yan Hu, PhD. “Every organ is really a complex machine built by many different cell types. The actual origin of each cell and which genes control their own normal function are the foundations for scientists to comprehend the disease process and eventually to find out how to guide the cells in order to self-repair or even to build up a brand new organ using amended tissue from the patients. ”

Far-Reaching Effects

The researchers, led by Helen Luisa S. Sequeira-Lopez, MD, of UVA’s Child Wellness Research Center, were investigating how the kidney forms whenever they noted that the deletion of the S1P1 gene in study mice had deadly consequences elsewhere in the body. “We had been studying the role of these genes in the development of the particular vasculature of the kidney, ” she recalled. “The coronary heart is the first organ that develops, and so when we erased this gene in these precursor cells, we found it resulted in abnormalities of the heart, severe edema, hemorrhage plus low heart rate. ”

That led these to look more closely at the heart. It was then that they uncovered the gene deletion had caused thin heart wall space and other cardiac problems in developing mice embryos. “So then we had to study the heart when the kidneys were nevertheless not even formed, ” she said. “We had to proceed far outside our comfort zone. ”

Their own findings would prove unexpected even for scientists that specialize in the development of the heart. “For a long time, scientists believed that every organ developed independently of other organs, and the cardiovascular developed from certain stem cells and blood created from blood stem cells, ” explained researcher John C. Belyea, MD, of the UVA Children’s Hospital. “A number of studies done in this lab and others, including this particular work, shows that there’s much more plasticity in these precursor tissue. What we found is that cardiac precursor cells that are found in the embryonic heart do indeed give rise to components of the guts in adults but also give rise to the blood cells. ”

The researchers were so surprised by their breakthrough that they went back and validated their findings repeatedly, making use of multiple techniques, including new techniques that they developed.

Belyea said that the discovery about the important role from the S1P1 gene may one day lead to better treatments for your condition. “We hope, ” he said, “that it is a stepping stone for our clinical colleagues. ”

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Materials provided by University associated with Virginia Health System . Note: Content material may be edited for style and length.