Usingmother cellsof young patientswith a serious congenital defect that affects the heart, scientists from the Stanford University School of Medicine (USA) have createdheart cells capable of beating that carry the same genetic mutation as patients. In this way, they will be able to study the disease directly in the laboratory in search of a cure.
TheTymothy’s syndromeis a rare disease of genetic origin that affects one in 7,000 people worldwide and causes the so-called long QT syndrome in the heart, a defect that causesirregular heartbeat. Patients often die at a very young age, and sometimes they also suffer from autism. The key to the disease lies in afaulty gene that codes for a protein called calcium channel, which controls the flow of calcium in the cell membrane. This process is crucial in many tissues, but especially in neurons and muscle cells, including heart cells, as it allows them to contract.
To study the physiology of these patients, the researcher Ricardo Dolmetschy and his teamreprogrammed the skin cells of two Timothy syndrome patients and five normal people and turned them into cardiac. The heart cells of the healthy subjects beat at a rate of 60 beats per minute, while those of the patients with the syndrome barely reached30 beats per minute. Using an experimental anticancer drug calledroscovitina, made the “diseased” cells beat at a normal rate.
The study is among the first to use the reprogramming of ordinary human cells to behave likeinduced pluripotent stem cells or iPS, which can be grown in the laboratory to study disease and develop new therapies.
