Jaci: rare genetic variation affecting severe infection

January 22, 2020 / bioun / -- chronic granulomatous disease (CGD) is a rare genetic disease, affecting one in 210000 people worldwide, and usually occurs when young Recently, researchers at the University of Montreal have elucidated the underlying mechanism of rare genetic diseases by creating the first cell model The results of the study have been published in the Journal of alliance and clinical immunology Dr touzot, the author of the article, said: "this is a primary innate immune deficiency that usually leads to severe recurrent infections caused by bacteria and fungi, and may lead to the loss of lung inflammation or inflammatory colitis similar to Crohn's disease At present, patients are forced to take antibiotics and anti-inflammatory drugs for the rest of their lives " (image source: www Pixabay Com) to better understand the mechanism of inflammation in CGD patients, touzot and his team created the first cell model of the disease in the laboratory of Chu Saint Justine They then used a technique called gene editing to recreate the genetic mutation that causes the disease and introduce it into their models This allows them to simulate the inflammatory reactions observed in patients and study their mechanisms "CGD is a genetic disease caused by mutations in NADPH oxidase," researcher Aissa said These mutations prevent white blood cells from working properly, so patients are no longer able to defend against certain bacteria and fungi It's very difficult to treat this inflammation because it puts patients at a higher risk of infection, sometimes even fatal A better understanding of the underlying mechanisms of this disease can help us develop new and more effective treatment strategies " The team showed that restoring NADPH oxidase function in defective cells would put the immune process back on track, proving that the gene mutation plays a direct role in causing inflammation The researchers said the new cell model will help develop less toxic, more effective targeted therapies for inflammation, which will significantly improve the quality of life of patients Source of information: hope for patients with a rare genetic condition linked to severe infections original link: Aissa benyoucef et al, CRISPR gene engineered cybbko THP-1 Cell Lines highlight the critical role of NADPH induced reactive oxygen species for regulatory informational activation, Journal of alliance and Clinical Immunology