According to a story from Newswise, a team of scientists and researchers associated with Université de Montréal and CHU Sainte-Justine have recently completed a study that maps a cellular model of chronic granulomatous disease. This model gives scientists greater insight into the underlying mechanism of action in this illness than ever before. With this improved understanding, the path to developing a more effective treatment has been illuminated.
About Chronic Granulomatous Disease
Chronic granulomatous disease (CGD), which is also called Bridges-Good syndrome, describes a diverse group of hereditary genetic diseases. They are characterized by the appearance of granulomata (small clusters of macrophages, a type of immune system cell) in many organs throughout the body. This is the result of immune cells not being able to form the reactive compounds used to destroy pathogens. It is caused by mutations affecting the NOX2 or CYBB gene, which is found on the X chromosome. Therefore, most cases of chronic granulomatous disease are X-linked. Infections are the most common symptom and appear due to the compromised state of the immune system. Infections may include skin infections, pneumonia, bacterial or fungal blood infections, septic arthritis, and osteomyelitis. The agents that cause infection are almost never dangerous in healthy people. Treatment include antibiotics, interferon, and stem cell transplant. A stem cell transplant can cure the disease but comes with serious risks. To learn more about chronic granulomatous disease, click here.
The researchers mapped the cellular model of the illness and then conducted gene editing on the model that introduced a genetic mutation that could trigger the symptoms. From here, the scientists were able to monitor the inflammatory response that is characteristic of chronic granulomatous disease. This inflammatory response prevents the effective function of the immune system and makes the patient vulnerable to infections. The inflammation in the illness is not in response to pathogens.
A key finding from the study was the importance of the NADPH oxydase enzyme, which is mutated in the disease. During the course of the research, the team found that restoring regular function of the enzyme normalized immune system function. These discoveries will be critical to the development of more effective therapies.
Check out the original study as published in the Journal of Allergy and Clinical Immunology.