A Path Leads to an IPF Breakthrough: British Scientists Discover Lung Fibrosis Gene

Health scientists at the University of Leicester and University of Nottingham have heralded the discovery of a gene associated with lung fibrosis, such as idiopathic pulmonary fibrosis (IPF), as “a potential new avenue of treatment for further research into this terrible disease,” according to a news release issued by the University of Leicester.
Idiopathic pulmonary fibrosis is a debilitating lung disease, where scarring (fibrosis) of the lungs makes it difficult to breathe. Approximately 50,000 new cases are diagnosed each year. Because it is difficult to diagnosis, often lung function has been greatly impaired before the condition is detected. So finding a genetic link to this deadly disease is a real breakthrough.

Researchers Professor Louise Wain from the University of Leicester and Professor Gisli Jenkins from the University of Nottingham analyzed the DNA from over 2700 people with IPF and 8500 people without IPF from around the world and found that people with IPF are more likely to have changes in a gene called AKAP13.

The researchers were also able to show that these DNA changes affect how much AKAP13 protein is produced by the gene in the lungs.  Researchers know from other studies, that AKAP13 is part of a biological pathway that promotes fibrosis (or scarring) and also that this biological pathway can be targeted with drugs. Taken together, the findings suggest targeting this pathway with drugs in people with IPF might lead to new treatments. To confirm this, the research team now need to undertake more detailed studies into the role of AKAP13 in people with IPF.

“What is really exciting about these studies is that this gene affects a pathway that can be targeted by drugs currently in development, opening the door to precision medicine in IPF,” said Jenkins.

The work was led by researchers at Leicester and Nottingham and brought together collaborators from around the world to form the largest combined analysis of people with IPF undertaken to date.

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