Elucidation of the lipid production mechanism critical for skin barrier formation - Drug development for skin barrier-related diseases -

The results of collaborative research led by Professor Akio Kihara of the Faculty of Pharmaceutical Sciences, Hokkaido University, and others.

• A gene (acyl-CoA synthase gene, FATP4) responsible for the production of acylceramide, a lipid critical for the formation of the skin permeability barrier (skin barrier), was successfully identified. Also, the pathway of acylceramide production was elucidated.
• The results of research should facilitate drug development for skin diseases caused by abnormal skin barriers, such as ichthyosis prematurity syndrome*, an incurable disease caused by FATP4 gene mutations.
  *Intractable premature infant disease accompanied by dyspnea and skin symptoms (ichthyosis).

This research project was conducted with the support of Advanced Research & Development Programs for Medical Innovation (AMED-CREST) by AMED.

The results of research were published in the Proceedings of the National Academy of Sciences of the United States of America on January 21.

Yamamoto H., et al. Skin permeability barrier formation by the ichthyosis-causative gene FATP4 through formation of the barrier lipid ω-O-acylceramide　PNAS
DOI：10.1073/pnas.1917525117