April 24, 2024
Kobe University
Keio University School of Medicine
National Center for Child Health and Development
A research group, including Professor Ryoji Kubo of the Kobe University Graduate School of Medicine, Dr. Kazuhiko Nakabayashi, Head of the Department of Maternal-Fetal and Neonatal Medicine at the National Center for Child Health and Development, and Assistant Professor Sonoko Saito and Professor Masayuki Amagai of the Department of Dermatology, Keio University School of Medicine, has discovered a new causative gene for porokeratosis, FDFT1 , through the analysis of the disease's pathogenic mechanism. They also made the first-ever discovery that an epigenetic abnormality—a change that switches off a gene's function rather than altering its DNA sequence—can cause skin disease. This finding is expected to help identify the causes of various other diseases whose origins remain unknown. Since porokeratosis caused by this newly discovered mechanism is not inherited by children, unlike other forms of the disease, its diagnosis is expected to bring peace of mind to many patients. Furthermore, the research revealed that topical statins are effective for this type of porokeratosis, paving the way for the development of new treatments for the condition.
These research findings will be published in " The American Journal of Human Genetics ," the official journal of the American Society of Human Genetics, on April 23.
Please see below for the full press release.