Junior Associate Professor Akira Oka of Tokai University Institute of Medical Sciences Professor Shiki Ikeda of Juntendo University Graduate School Graduate School of Medicine has selected "CCHCR1" as one of the causative genes of alopecia areata for the first time in the world. Identification. A paper entitled "Alopecia areata disease susceptibility gene variants in the MHC region affect gene expression related to hair keratinization and are involved in hair loss" was published in the online version of the medical journal "EBioMedicine" on June 21. It was published.
The prevalence of alopecia areata is said to be 1-2%. Most are single-shot hair loss lesions, but in some cases, hair loss may occur on the entire head or the entire body, and there is concern that changes in appearance may significantly reduce the patient's QOL. Many factors, such as immune system abnormalities and gene mutations, are thought to be involved, but the cause and mechanism of their onset have not been elucidated. Junior Associate Professor Oka searched for the causative gene of alopecia areata using the method of "genetic statistics" that statistically analyzes the relationship between genetic information and the expression of diseases. We have discovered that there is a causative mutation in the CCHCR1 gene located in the MHC region (major histocompatibility complex), which is part of human chromosome 6. Therefore, when a mouse with the same gene mutation (genetically modified mouse) was prepared using a technique called "CRISPER / Cas9", hair loss symptoms very similar to those of alopecia areata patients developed. Furthermore, it was clarified that the analysis results of the hair shaft (the part of the hair protruding from the skin) and the gene expression pattern of patients with mutations in CCHCR1 are very similar to those of genetically modified mice.
Oka Junior Associate Professor is, "also in the analysis of the state and the gene of the hair shaft of the human even in genetically modified mice, CCHCR1 gene in alopecia areata was able to demonstrate that they are involved. Currently, at the molecular level of the pathogenesis elucidated we are working. This study was adopted in research Organization project study of the 2019 fiscal year, School of Science Department of Chemistry of Michio Iwaoka Professor and School of Engineering Department of Applied Chemistry of Tomoko Kezuka Associate Professor we are also joint research with et al. wounds We would like to accelerate research toward the development of new diagnostic, preventive, and therapeutic methods based on genetic information as well as drugs. "
* You can see the papers published in "EBioMedicine" from the following URL.
https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964 (20) 30185-7 / fulltext
