Identification and function analysis of susceptible genes for familial pulmonary NTM diseases

• Project/Area Number: 15H06590
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Respiratory organ internal medicine
• Research Institution: Keio University
• Principal Investigator: Namkoong Ho 慶應義塾大学, 医学部(信濃町), 助教 (50594644)
• Project Period (FY): 2015-08-28 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000); Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: エクソーム解析 / 肺NTM症 / 疾患感受性遺伝子 / 肺非結核性抗酸菌症 / 家族性

Outline of Final Research Achievements

We have gathered DNA samples from 21 Japanese cases of familial PNTM disease（10 families）. We have performed exome analysis for the family members who were suspected to have the strong susceptible gens since the three members suffered from pulmonary NTM diseases. Concretely, after SNP analysis, we have confirmed gene A by the sanger sequencing.

Research Products

• [Journal Article] Epidemiology of Pulmonary Nontuberculous Mycobacterial Disease, Japan (2016)
  • Author(s): Ho Namkoong, Atsuyuki KurashimaComments to Author , Kozo Morimoto, Yoshihiko Hoshino, Naoki Hasegawa, Manabu Ato, and Satoshi Mitarai
  • Journal Title: Emerging Infectious Diseases Volume: 22 Issue: 6 Pages: 1116-1117
  • DOI: 10.3201/eid2206.151086
  • Peer Reviewed / Open Access
• [Journal Article] Refractory tenosynovitis with 'rice bodies' in the hand due to Mycobacterium intracellulare. (2015)
  • Author(s): Namkoong H, Fukumoto K, Hongo I, Hasegawa N.
  • Journal Title: Infection Volume: Epub ahead of print Issue: 3 Pages: 1-1
  • DOI: 10.1007/s15010-015-0844-0
  • Peer Reviewed / Open Access
• [Journal Article] Immune reconstitution inflammatory syndrome due to Mycobacterium avium complex successfully followed up using 18F-fluorodeoxyglucose positron emission tomography-computed tomography in a patient with human immunodeficiency virus infection: A case report. (2015)
  • Author(s): Namkoong H, Fujiwara H, Ishii M, Yagi K, Haraguchi M, Matsusaka M, Suzuki S, Asakura T, Asami T, Saito F, Fukunaga K, Tasaka S, Betsuyaku T, Hasegawa N.
  • Journal Title: BMC Med Imaging Volume: 18 Issue: 1 Pages: 24-24
  • DOI: 10.1186/s12880-015-0063-2
  • Peer Reviewed / Open Access
• [Book] 【非結核性抗酸菌症の今】 非結核性抗酸菌症の標準治療 (2015)
  • Author(s): 南宮湖、長谷川直樹
  • Total Pages: 11
  • Publisher: 日本胸部臨床
• [Book] 肺非結核性抗酸菌症の薬物療法 (2015)
  • Author(s): 南宮湖、長谷川直樹
  • Total Pages: 6
  • Publisher: 科学評論社
• [Book] 「EBMを活かす呼吸器診療」肺非結核性抗酸菌症 (2015)
  • Author(s): 南宮湖、長谷川直樹
  • Total Pages: 6
  • Publisher: メジカルビュー社