News Releases & Research Results Elucidation of genetic mutation associated with idiopathic pulmonary fibrosis

Research results of the group led by Professor Koji Yasutomo of the Graduate School of Medicine, Tokushima University and others.

• Regarding idiopathic pulmonary fibrosis (IPF) whose pathogenic mechanism is poorly understood in detail, genomic analysis of familial IPF identified SFTPA1 as a causative gene.
• Using the mouse model, the pathogenesis was found to originate from the death of type II alveolar epithelial cells due to mutation of the SFTPA1 gene.
• These results are expected to lead to the development of new therapies for idiopathic pulmonary fibrosis.

This project was supported by Advanced Research and Development Programs for Medical Innovation (AMED-CREST) of AMED.

These results were published in the Journal of Experimental Medicine, dated October 10.

Takazaki A., et al. A homozygous SFTPA1 mutation drives necroptosis of type II alveolar epithelial cells in patients with idiopathic pulmonary fibrosis The Journal of Experimental Medicine
DOI:10.1084/jem.20182351