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