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To Establish a treatment method for the Nagashima-type palmoplantar keratosis based on the fine analysis of genome variation and skin microbiota

Research Project

Project/Area Number 17K10252
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Dermatology
Research InstitutionKeio University

Principal Investigator

SHIOHAMA Aiko  慶應義塾大学, 医学部(信濃町), 特任助教 (40383731)

Co-Investigator(Kenkyū-buntansha) 佐々木 貴史  慶應義塾大学, 医学部(信濃町), 講師 (70306843)
久保 亮治  慶應義塾大学, 医学部(信濃町), 准教授 (70335256)
Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords皮膚遺伝学 / 遺伝性角化症 / 菌叢解析 / ゲノムシーケンシング / ゲノム解析
Outline of Final Research Achievements

Nagashima-type palmoplantar keratosis (NPPK) was an established autosomal recessive, early-onset palmoplantar keratoderma caused by mutations in the encoding SERPINB7 gene which was a member of the serine protease inhibitor superfamily. Normal form of the SERPINB7 protein was expressed in the stratum granulosum and stratum corneum. We applied to the Whole Genome Analysis to determine the patient who single pathogenic mutation. Candidate allele was derived from a common genomic cluster region Chr.18q21.33 included SERPINB7 gene.
Our skin microbiome studied against 60 NPPK patients targeted for Palm and Plantar region. There were High yield bacteria gDNA amplicon was obtained between the first and second toes by quantitative PCR analysis by 16S rRNA gene specific designed analysis. Those extracted DNA samples were processed and sequenced by Next generation Sequencing, and defined the odors caused from Corynebacterium, one of major skin commensal bacteria in human skin.

Academic Significance and Societal Importance of the Research Achievements

申請者らが同定したSERPINB7遺伝子は、長島型掌蹠角化症の原因遺伝子であり、新たな“SERPIN病”の一つである。これまでの変異解析の結果、日本人全体で1万人を超える潜在的な患者数が予想されるが、角化症と認識されていない例もあると推測された。発症機序解明から治療法が確立できれば、患者のQOL改善に大きく貢献する事ができる。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (10 results)

All 2019 2018 2017 Other

All Journal Article (3 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 3 results,  Open Access: 2 results) Presentation (4 results) (of which Int'l Joint Research: 3 results) Remarks (3 results)

  • [Journal Article] A nonepidermolytic keratinocytic epidermal naevus associated with a postzygotic mutation in the gene encoding epidermal growth factor receptor2019

    • Author(s)
      Umegaki‐Arao N.、Ono N.、Tanaka R.、Sasaki T.、Fujita H.、Shiohama A.、Aoki S.、Amagai M.、Kubo A.
    • Journal Title

      British Journal of Dermatology

      Volume: - Issue: 5 Pages: 1303-1305

    • DOI

      10.1111/bjd.18729

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes2019

    • Author(s)
      Kubo Akiharu、Sasaki Takashi、Suzuki Hisato、Shiohama Aiko、Aoki Satomi、Sato Showbu、Fujita Harumi、Ono Noriko、Umegaki-Arao Noriko、Kawai Tomoko、Nakabayashi Kazuhiko、Hata Kenichiro、Yamada Daisuke、Matsubara Yoichi、Kosaki Kenjiro、Amagai Masayuki
    • Journal Title

      Journal of Investigative Dermatology

      Volume: 139 Issue: 12 Pages: 2458-2466.e9

    • DOI

      10.1016/j.jid.2019.05.020

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Three cases of Nagashima-type palmoplantar keratosis associated with atopic dermatitis: A diagnostic pitfall2017

    • Author(s)
      Yamauchi Aiko、Kubo Akiharu、Ono Noriko、Shiohama Aiko、Tsuruta Daisuke、Fukai Kazuyoshi
    • Journal Title

      The Journal of Dermatology

      Volume: 45 Issue: 5

    • DOI

      10.1111/1346-8138.14152

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Presentation] Postnatal somatic recombinations and C>T transition mutations are two major triggers of disseminated superficial actinic porokeratosis in MVD or MVK mutant heterozygotes.2019

    • Author(s)
      Kubo A, Sasaki T, Suzuki H, Shiohama A, Aoki S, Kawai T, Nakabayashi K, Hata K, Kosaki K, Amagai M.
    • Organizer
      49th Annual ESDR Meeting, Bordeaux, FRANCE
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Tmem79 deficient mice sequentially develop dermatitis associated with S.aureus non-dominant and dominant dysbioses.2018

    • Author(s)
      Takashi Sasaki, Aiko Shiohama, Keigo Matsuda, Takuji Yamada, Hiroshi Kawasaki, Akiharu Kubo, Masayuki Amagai
    • Organizer
      International Investigative Dermatology 2018
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] Three genetic variants in TLR1, TIRAP and PSAPL1 are enriched in a specific subgroup of adult atopic dermatitis showing persistent skin manifestation on the face and neck area.2018

    • Author(s)
      Fumiyo Yasuda-Sekiguchi, Aiko Shiohama, Hiroshi Kawasaki, Tamotsu Ebihara, Akiharu Kubo, Masayuki Amagai, Takashi Sasaki
    • Organizer
      International Investigative Dermatology 2018
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] アトピー性皮膚炎患者に対する次亜塩素酸ナトリウム含有浴(Bleach bath)療法が皮膚細菌叢及び臨床症状へ与える影響の検討2017

    • Author(s)
      小幡 祥子、川崎 洋、本多 皓、安田文世、塩濱愛子、佐々木貴史、川上英良、天谷雅行、海老原 全
    • Organizer
      第38回日本炎症再生医学会
    • Related Report
      2017 Research-status Report
  • [Remarks] 汗孔角化症の発症メカニズムを解明  ~日本人の400人に1人が発症素因を持つことが明らかに~

    • URL

      http://kompas.hosp.keio.ac.jp/contents/medical_info/science/202001.html

    • Related Report
      2019 Annual Research Report
  • [Remarks] 長島型掌蹠角化症-疾患の発見から原因遺伝子の解明へ-

    • URL

      http://kompas.hosp.keio.ac.jp/contents/medical_info/science/201406.html

    • Related Report
      2018 Research-status Report
  • [Remarks] 生まれつきの皮膚症状(先天性の皮膚疾患)

    • URL

      http://kompas.hosp.keio.ac.jp/contents/000806.html

    • Related Report
      2018 Research-status Report

URL: 

Published: 2017-04-28   Modified: 2021-02-19  

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