A Rapid, Accurate and Simple Diagnostic Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper

• Project/Area Number: 25860860
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Kobe University
• Principal Investigator: MORIKAWA Satoru 神戸大学, 医学(系)研究科(研究院), 講師 (50457074)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000); Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000); Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 脊髄性筋萎縮症 / 迅速診断 / SMN1遺伝子 / スクリーニング / 乾燥濾紙血 / PCR / 高解像度融解曲線分析 / HRMA / 尿検体 / 唾液検体

Outline of Final Research Achievements

Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by mutation of the survival of the motor neuron 1 (SMN1) gene. More than 95% of SMA patients carry a homozygous deletion of SMN1. SMA is recognized as an incurable disease, but there are now promising therapeutic candidates from recent clinical trials. Researchers and clinicians have just started to investigate the possibilities of mass screening for SMA according to ELSI (Ethical, Legal and Social Implications) and mutation-screening techniques [1]. In this study, we investigated the possibilities of SMA mass screening from the technical viewpoint and established a rapid, accurate and simple screening system for SMA with PCR-HRMA using DNA extracted from DBSs on filter paper.

Research Products

• [Journal Article] A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper. (2015)
  • Author(s): Sa’adah N, Harahap NI, Nurputra DK, Rochmah MR, Morikawa S, Nishimura N, Sadewa AH,
  • Journal Title: Clinical Laboratory Volume: in press
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Severely high serum unbound bilirubin level after abdominal surgery in a newborn (2013)
  • Author(s): Morioka I, Miwa A, Yokota T, Do Huu CT, Nagasaka M, Koda T, Matsuo K, Morikawa S, Shibata A,Hisamatsu C, Nishio H, Yamada H, Nishijima E, Iijima K
  • Journal Title: Pediatr Int Volume: 55 Issue: 3 Pages: 59-62
  • DOI: 10.1111/ped.12018
  • Peer Reviewed
• [Journal Article] Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials (2013)
  • Author(s): Nurputra DK, Lai PS, Harahap NI, Morikawa S, Yamamoto T, Nishimura N, Kubo Y, Takeuchi A, Saito T, Takeshima Y, Tohyama Y, Tay SK, Low PS, Saito K, Nishio H
  • Journal Title: Ann Hum Genet. Volume: 77 Issue: 5 Pages: 435-463
  • DOI: 10.1111/ahg.12031
  • Peer Reviewed
• [Journal Article] Quantitative Evaluation of Ventricular Dilatation using Computed Tomography in Infants with Congenital Cytomegalovirus Infection. (2013)
  • Author(s): Matsuo K
  • Journal Title: Brain & Development. Volume: in press Issue: 1 Pages: 10-15
  • DOI: 10.1016/j.braindev.2012.12.009
  • Peer Reviewed