Various complications may arise while treating patients with congenital heart disease and the following tidbit helps overcome it. Researchers from the University of British Columbia have supposedly provided a detailed insight into the ryanodine receptor, a structure within muscle cells associated with congenital heart conditions. The Canadian Light Source synchrotron and the Stanford Synchrotron Radiation Lightsource were put to use for laying hands on this discovery.
Researchers believe that in response to the release of calcium through ryanodine receptors, muscle cells contract. Ryanodine receptors are possibly made up of interlocking parts, or domains and their mutations taking place within ill-fitted domains cause calcium leakage. The leaking calcium supposedly triggers muscle cells to ‘misfire’ and result in premature jerky contractions. Such a process occurring in heart muscle seems to be responsible for fatal rapid or irregular heartbeats in response to cardiovascular stress.
Filip Van Petegem, an assistant professor in UBC’s Department of Biochemistry and Molecular Biology and lead investigator, enlightened, “The ryanodine receptor is a complex molecular machine within muscle cells. We’ve known that it plays an important role in certain congenital heart conditions but due to its size and complexity, there has never been a good, detailed model of its structure or where many of the mutations that can lead to diseases are located.”
Similar kind of irregular, rapid contractions in skeletal muscles may be capable of leading to dangerous spikes in body temperature also known as malignant hyperthermia. Dangerous spikes in body temperature may be brought on by certain forms of general anaesthetics in people with a genetic mutation that causes leaky receptors. Super bright beams of X-rays generated at both synchrotrons were shone onto crystallized receptor proteins by the experts. Then the way X-rays diffracted when passed through the crystal was calculated. The achieved patterns were employed for crafting a high-resolution model of specific regions within the receptors prone to disease-causing mutations, or ‘hot spots.’ The findings can help scientists to introduce novel drug treatments for avoiding calcium leakage.
The research was published online in the journal Nature.