Working out how a faulty gene can cause a cardiac arrest

Not all cardiac ryanodine receptor mutations are the same: A study using human induced pluripotent stem cells to elucidate arrhythmic mechanism in the first described nonsense mutation of the cardiac ryanodine receptor resulting in a cardiac phenotype (Dr Claire Hopton)

A clinical student working with Dr Luigi Venetucci at the University of Manchester is investigating how a faulty gene that makes proteins involved in calcium release within the heart can cause irregular heart rhythms. The researchers are examining the case of a young woman who recently had a cardiac arrest and has a mutation in the gene that encodes a channel inside the heart muscle cell called the ryanodine receptor. The ryanodine receptor allows calcium to enter the cell from a large internal store. This mutation has not previously been found in anyone else and it is uncertain how it causes life threatening heart rhythm disturbances. The patient’s mother has the same alteration on this gene, but has not had any health issues. These BHF-funded researchers want to find out what is different between these two family members. To do this, they will take skin cells from both mother and daughter and turn the skin cells into heart cells. They can then compare these heart cells and see if there are differences in the way they function that can explain why one family member has heart rhythm problems and not the other. These findings may help to understand how alterations in the cardiac ryanodine receptor gene cause abnormal heart rhythms. This could help researchers tailor treatments for people at risk of abnormal heart rhythms and sudden cardiac death.