Neonatal screening for spinal muscular atrophy by measuring SMN protein in dried blood spots

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K08259
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Kumamoto University
• Principal Investigator: Nakamura Kimitoshi 熊本大学, 大学院生命科学研究部(医), 教授 (30336234)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 新生児スクリーニング / SMN蛋白

Outline of Final Research Achievements

Spinal muscular atrophy (SMA) is a disease that presents with muscle atrophy and progressive muscle weakness due to degeneration of the anterior horn cells of the spinal cord. became. For SMA, a newborn screening method using qPCR has been developed, but there are many ethical issues because it is screening using genetic diagnosis. We have developed a method to measure SMN protein using filter paper blood for neonatal screening. Then, neonatal SMA was screened by measuring SMN protein using filter paper blood samples. This test actually identified SMA patients during newborn screening and allowed gene therapy to be used as an early treatment.

Free Research Field

新生児スクリーニング

Academic Significance and Societal Importance of the Research Achievements

脊髄性筋萎縮症(SMA)は、遺伝子治療薬の開発も進んでおり、生後早期に治療をおこなうと、歩行が可能なまでに発達できることが分かってきた。このSMAでは、qPCR法を用いた新生児スクリーニング法が開発されているが、遺伝子診断を用いたスクリーニングであるため、倫理的な課題は多く、産科施設で説明をおこなってスクリーニングをおこなうには解決すべき点が多い。本研究によって本症の早期診断と新生児期のスクリーニングを可能にし、適切な治療時期の検討を行うことで、SMAの早期診断と治療の意義を明らかにすることができた。