A genetic mutation in humans has been discovered that is linked to a 17-fold increase in the number of dangerous fungal spores in the lungs.
Scientists behind the study believe that their findings could allow doctors to screen patients at risk from Aspergillus.
Aspergillus is normally cleared from the lungs but researchers at the University of Manchester, UK, say 4% of people have the newly discovered mutation which means Aspergillus thrives in the airways.
The findings are published in Nature. The researchers report how Dr Sara Gago discovered the increased risk after comparing normal human cells to cells that had been gene edited to contain the mutation.
The ZNF77 gene is mainly responsible for the extracellular matrix of the lungs’ epithelial tissue and these mutated cells had a weak response to Aspergillus.
Dr Paul Bowyer, who led the study that was funded by the Fungal infection Trust and supported by the NIHR Manchester Biomedical Research Centre, said people with asthma, who have had transplant surgery, TB and many other illnesses that lower immunity could be screened for the genetic mutation.
“Until now we never really understood why some people have a much higher Aspergillus load than others,” he said.
“Now that we do, it’s quite a significant advance in understanding this disease. We don’t yet know how or why the mutation occurs but nevertheless this discovery provides the basis for a simple and inexpensive DNA test in those who people who are more at risk from Aspergillus.”
Colonization of lungs by Aspergillus fumigatus is controlled by ZNF77. Nature 19 September 2018.
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