Gene Behind Idiopathic Pulmonary Fibrosis Uncovered

IDIOPATHIC pulmonary fibrosis (IPF) is diagnosed in around 6,000 new patients every year. This debilitating disease stems from scarring within the lungs, resulting in the patient suffering major breathing difficulties. Life expectancy is predicted at around 3 years post diagnosis and patients experience a range of unpleasant side effects as a result of the disease. There is currently no cure for IPF, and current drugs on the market are only effective enough to slow the progression of the disease, not reverse the progression or cure the disorder. However, a new study has highlighted a new direction of inquiry into this devastating condition: genetics.

A collaborative study led by Prof Louise Wain, Department of Health Sciences, University of Leicester, Leicester, UK, and Prof Gisli Jenkins, School of Medicine, University of Nottingham, Nottingham, UK, carried out genome wide association studies in 2,700 patients suffering from IPF and 8,500 ‘control’ individuals that did not suffer from IPF. The study was carried out to identify differences between the genomes of healthy individuals and IPF sufferers. The study showed alteration of the AKAP13 gene in the IPF genome, which gave rise to elevated expression of AKAP13 protein.

Previous studies have shown that AKAP13 plays a key role in the cascade pathway that promotes the scarring of organs, including the lungs. Further studies are required to confirm the importance of AKAP13 in the progression of lung fibrosis observed in IPF. Prof Wain stated: “Our findings highlight a potential new avenue for treatment and we now need more research to identify why this gene is important in IPF and how we can use that information to identify new therapies.”

The AKAP13 pathway has already been shown to be drug sensitive in multiple other investigations, and targeted treatment in IPF patients could provide new therapy options that might be able to permanently halt the progression of lung fibrosis. Prof Jenkins commented: “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.”

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