One of the greatest mysteries that paediatric cardiologists have been trying to solve is what causes certain structural defects in the heart muscles of babies. One common congenital issue that they have been studying is left ventricular non-compaction (LVNC). It causes the heart’s biggest pumping chamber to become spongy and weak rather than solid and strong. There is currently no cure for the condition other than a heart transplant.
One research team has developed a technology that may help them discover the cause of this congenital defect and how to treat it. The team, led by Dr. Joseph Wu from Stanford University, used induced pluripotent stem cells to create heart muscle cells that have the disease. They can then study the heart cell in vitro without the need to take heart muscle biopsies from patients.
Researchers have already discovered that the problems causing LVNC begin well before the baby is born. It occurs when the heart muscle fails to make a developmental shift while the foetus is growing in the womb. It typically occurs at about 8 weeks into gestation. Being able to closely analyse cardiac cells with the condition in a laboratory setting may help scientists pinpoint the precise cause.
Studying cardiac cells derived from stem cells may also help them to understand why the condition ranges in severity. Some people with LVNC barely have any symptoms, while it is life-threatening for others. To help discover the reason why, scientists managed to obtain cell donations from three siblings with vastly different symptoms. They will closely analyse their stem cell-derived cardiac cells to discover how they differ.
Scientists already have clues about why LVNC develops. People with LVNC have abnormal levels of a protein called TBX20. This protein controls the expression of certain genes that play a role in the development of the heart. Scientists will now be able to experiment with TBX20 levels and monitor how it changes cardiac cell proliferation in a petri dish.
Scientists hope that the new stem cell techniques for studying congenital heart defects will lead to many breakthroughs in the coming years.
Source: How does a heart defect start? Stanford scientists use stem cells to find out
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