ELife: Why are some cystic fibrosis patients not susceptible to infection? It turns out that key genes are helping!

December 13, 2019 / BIOON / -- cystic fibrosis is a kind of heredity regulated by fibrosis transmembrane conduction regulator (CFTR) Due to the occurrence of mutation, CFTR is often unable to embed into the cell membrane to form chloride channels Therefore, the cells producing mucus will produce mucus slightly thicker than the normal thickness, thus blocking the lung and digestive system In the lung, this thicker year-end will help bacteria Survival, and make the lung become a serious chronic problem in patients with cystic fibrosis Photo source: UC San Diego Health Sciences some patients with cystic fibrosis do not have lung infection as early or too frequently as others Recently, a study published in the International Journal eLife found that the genetic This may explain why some patients with cystic fibrosis are less susceptible to infection According to the researchers, cystic fibrosis patients with special mutations often carry more mutated CFTR protein on their cell surface, even if CFTR protein does not play a full role, it is better than none at all; the disease symptoms of cystic fibrosis patients are often significantly improved by ingesting new drugs to enhance the function of CFTR protein, but they also need to It should be noted that these drugs are very expensive and not suitable for all patients with cystic fibrosis Researcher Kelly A Frazer, Ph.D., said that the research field of cystic fibrosis is trying to clarify exactly what changed the genome of the body, so as to increase or reduce the difference of these patients' response to expensive drugs; rnf5 may be one of the genes that can be modified, which is located in the major histocompatibility complex (MHC In complex), the genes in this region can encode the molecules displayed on the surface of most cells of the body, which also plays a key role in the response of the body to infection For a long time, scientists have known that each human body has its own set of MHC gene mutation patterns, which will make people immune to infection or autoimmunity Sexual diseases become more susceptible or less susceptible; however, because the gene density in MHC region is so large and there are so many variations, researchers have not yet studied the mysterious relationship between MHC and diseases In this study, the researchers conducted in-depth analysis of MHC gene mutations, and identified the relationship between genetic mutations, gene expression levels and their effects on complex diseases Frazer, the researcher, said that we all know MHC gene and bacteria in patients with cystic fibrosis There is a certain relationship between colonization, but the reason is not known We speculate that this may be because MCH is involved in the function of the immune system, but now we find that this may not be the only mechanism Different expression levels of rnf5 gene may also play a key role in it Finally, the researchers said that this study has opened up a new aspect of cystic fibrosis, or will help us develop new drug therapy to improve the treatment of patients; now we have drawn a blueprint, and it is possible to apply it to the treatment of other diseases in the future Original sources: Matteo D'Antonio, Joaquin Reyna, David jakubosky, et al Systematic genetic analysis of the MHC region reforms mechanical foundations of HLA type associations with disease, eLife (2019) Doi: 10.7554/elife.48476