Researchers from UCL and Radbound University have claimed that two genetic mutations could put people at additional risk in contracting fungal infections. This research apparently augments the understanding about the genetic basis of these infections and has the supposed possibility to assist in the development of new treatments. The findings have apparent connotations for individuals with chronic mucocutaneous candidiasis (CMC), in addition to common infections such as vaginal candidosis.
The UCL-led research concentrated on patients from numerous generations of a huge family who had gone through severe recurring fungal infections that apparently proved to be deadly in a few of those affected. DNA sequencing and genetic mapping techniques supposedly facilitated the researchers to recognize that this family had a persistent mutation in a gene known as CARD9. The team from Radboud University in the Netherlands found that a mutation in the gene Dectin-1 is alleged to be linked with augmented vulnerability to vaginal infections by fungi.
When these two genes are functioning properly, Dectin-1 apparently observes the attendance of fungi and provokes the immune cells to propel signals that could result in CARD9 setting off a molecular response in the immune system to defend against these microorganisms. If Dectin-1 or CARD9 are mutated or missing, the immune system tries quite hard to manage Candida and may let local or even systemic infections to build up.
Professor Mihai Netea, who led the team from Radboud University, commented, “Although the process of host response to fungal infection has previously been studied in mice, it is very interesting to see that it is the same in humans. The new results show that the mechanisms to protect against fungal infections have been largely conserved by evolution between mice and humans, which is not necessarily the case for other microbes.”
Both researches included researchers from all over the world. Critical experiments to establish the causality of the CARD9 mutation were conducted at the Technical University of Munich, Germany, where mice without the equivalent gene were supposedly vulnerable to fungal infections. Likewise, display of the molecular mechanisms resulting in the loss of fungi identification by mutated Dectin-1 in mice was said to be conducted by the University of Aberdeen.
Corresponding author Professor Bodo Grimbacher, UCL Infection & Immunity and Consultant Immunologist at The Royal Free Hospital, added that this discovery enables further insights in the interaction between fungi and the human immune system and may pave the way for future therapeutic options in patients suffering from Candida infections.