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

2014 Fiscal Year Final Research Report

• 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
• 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

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.

Free Research Field

小児科学