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UMENO JUNJI Last modified date:2019.05.30

Assistant Professor / Department of Medicine and Clinical Science, Graduate School of Medical Sciences
Department of Gastroenterology
Kyushu University Hospital


Graduate School
Other Organization


E-Mail
Phone
092-642-5261
Fax
092-642-5273
Academic Degree
Impact of group IVA cytosolic phospholipase A2 gene polymorphisms on phenotypic features of patients with familial adenomatous polyposis
Field of Specialization
Gastroenterology
Research
Research Interests
  • Causative gene for familial fundic gland polyposis
    keyword : fundic gland polyposis, GAPPS
    2016.04~2019.05.
  • Causative gene for chronic nonspecific multiple ulcers of the small intestine
    keyword : chronic nonspecific multiple ulcers of the small intestine
    2012.04~2017.03.
  • clinical features of collagenous colitis
    keyword : collagenous colitis
    2012.04~2016.05.
  • ulcerative colitis related genes
    keyword : ulcerative colitis
    2012.04~2018.04.
Academic Activities
Papers
1. Junji Umeno, Tadakazu Hisamatsu, Motohiro Esaki, Atsushi Hirano, Takayuki Matsumoto, Kitazono T, A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter., e1005581, 2015.11, Previously, we proposed a rare autosomal recessive inherited enteropathy characterized by persistent blood and protein loss from the small intestine as chronic nonspecific multiple ulcers of the small intestine (CNSU). By whole-exome sequencing in five Japanese patients with CNSU and one unaffected individual, we found four candidate mutations in the SLCO2A1 gene, encoding a prostaglandin transporter. The pathogenicity of the mutations was supported by segregation analysis and genotyping data in controls. By Sanger sequencing of the coding regions, 11 of 12 other CNSU patients and 2 of 603 patients with a diagnosis of Crohn’s disease were found to have homozygous or compound heterozygous SLCO2A1 mutations. In total, we identified recessive SLCO2A1 mutations located at seven sites. Using RT-PCR, we demonstrated that the identified splice-site mutations altered the RNA splicing, and introduced a premature stop codon. Tracer prostaglandin E2 uptake analysis showed that the mutant SLCO2A1 protein for each mutation exhibited impaired prostaglandin transport. Immunohistochemistry and immunofluorescence analyses revealed that SLCO2A1 protein was expressed on the cellular membrane of vascular endothelial cells in the small intestinal mucosa in control subjects, but was not detected in affected individuals. These findings indicate that loss-of-function mutations in the SLCO2A1 gene encoding a prostaglandin transporter cause the hereditary enteropathy CNSU. We suggest a more appropriate nomenclature of “chronic enteropathy associated with SLCO2A1 gene” (CEAS)..
Presentations
1. 梅野 淳嗣, 江﨑 幹宏, 平野 敦士, Clinical features of chronic enteropathy associated with SLCO2A1 gene (CEAS), 12th Congress of European Crohn's and Colitis Organisation, 2017.02.
2. 梅野 淳嗣, Chronic enteropathy associated with SLCO2A1 gene, encoding prostaglandin transporter (CEAS): relationship with primary hypertrophic osteoarthropathy. , The 4th Annual Meeting of AOCC, 2016.07.
3. Junji Umeno, Tadakazu Hisamatsu, Motohiro Esaki, Atsushi Hirano, Takayuki Matsumoto, Chronic enteropathy associated with SLCO2A1 gene, encoding prostaglandin transporter (CEAS), 2015 Advances in Inflammatory Bowel Diseases: Crohn's & Colitis Foundation of America's Clinical & Research Conference, 2015.12.