Professor Chris Denning, Professor of Stem Cell Biology, is senior author on "Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes" - published April 2014.
A set of genetic disorders adversely affect the heart and can lead to 'sudden cardiac death' or SCD, wherein mutated ion channels do not function properly. While prescription of b-blockers or surgical implantation of miniature defibrillators are the usual course of intervention, they are not always successful and new treatments are needed to keep patients safe. We consented patients with SCD syndrome to donate skin biopsies. In the lab, skin cells were genetically reprogrammed into human induced pluripotent stem cells (hiPSC), which could then be differentiated into heart cells. i.e. skin > stem cells > heart cells. Because these heart cells retain the patient mutation, they display electrical abnormalities including arrhythmias and so mirror some of the clinical symptoms. In this publication, we showed that genetic intervention directed only to the mutation (allele-specific RNA interference) could prevent arrhythmias from developing in the patient-specific stem cell-derived heart cells. This points the way to a new range of therapies that could be developed for patients with SCD.
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