Our team is conducting research aimed at genetic analysis of suspected cases of hereditary skin diseases, elucidation of their pathophysiology, and therapeutic development. The Department of Dermatology at Hokkaido University has a history of keratinization disease research that has been linked with Professor Masashi Akiyama (currently a professor at Nagoya University) and Professor Toshifumi Nomura (currently a professor at Tsukuba University). We are focusing on research on hereditary keratinization diseases (congenital ichthyoses, palmoplantar keratoderma, and autoinflammatory keratinization diseases).
There are three main areas that we greatly value. The first is diagnosis. In addition to morphological observation mainly through clinical and pathological findings, we endeavor to actively adopt the latest gene analysis methods that are evolving day by day to lead to ever more accurate diagnoses. The second is fundamental research. We are currently focusing on the two major themes of elucidating the mechanism of the natural gene therapy phenomenon that occurs in keratinization diseases, and developing lead-through therapeutic agents. We strive to make significant progress with research so that we are able to report further findings. The third area is treatment. All of the above fundamental research has the potential to be used in future therapies, but that inevitably takes time. In terms of treatment for patients who are currently facing the challenges of their conditions, it is very important to actively consider whether existing treatments for other diseases may lead to improvement in the symptoms of keratosis.
The team currently includes Shotaro Suzuki, Jin Teng Peh, and Masae Takeda, and we are conducting research every day with the aim of achieving results that can be used to help patients with hereditary skin diseases.
Major research results since 2016
- Genetic analysis of a novel splice-site mutation in TMC8 reveals the in vivo importance of the transmembrane channel-like domain of TMC8 (Miyauchi T et al. Br J Dermatol 2016)
- Extensive Erythema and Hyperkeratosis on the Extremities and Lumbar Area as an Unusual Mani-festation of Nagashima-type Palmoplantar Keratosis (Miyauchi T et al. Acta Derm Venereol 2016)
- Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1 (Suzuki S, Nomura T, Miyauchi T et al. J Invest Dermatol 2016)
- Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes (Nomura T, Suzuki S, Miyauchi T et al. JCI Insight 2018)
- Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts (Ohguchi Y, Nomura T, Miyauchi T et al. J Invest Dermatol 2018)
- Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis (Takeda M, Nomura T, Miyauchi T et al. J Dermatol 2018)
- Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma (Suzuki S, Nomura T, Miyauchi T et al. Life Sci Alliance 2019)
- A Case of Malignant Melanoma Arising in Nagashima-type Palmoplantar Keratosis (Katayama S, Nomura T, Miyauchi T et al. Acta Derm Venereol 2019)
- Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism(Miyauchi T et al. Am J Hum Genet 2021)