Development of spinal muscular atrophy treatment by SMN2 gene splicing modification

2014 Fiscal Year Final Research Report

• Project/Area Number: 24791060
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Kobe University
• Principal Investigator: NAKAGAWA Taku 神戸大学, 医学部附属病院, 助教 (40457073)
• Co-Investigator(Renkei-kenkyūsha): NISHIO Hisahide 神戸大学, 大学院医学研究科, 教授 (80189258)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: spinal muscular atrophy / SMA / splicing / SMN2

Outline of Final Research Achievements

Spinal muscular atrophy is a fatal congenital neuromuscular disease caused by SMN1 gene mutation. Effective treatment has not established yet. As a strategy of the treatment, modification for SMN2 splicing is thought to be a promising approach. We previously discovered compound A is effective to modify the SMN2 splicing using mini gene system. Subsequently, we tried to search for similar compound that would modify the SMN2 splicing safely. However, we didn't find the effective compounds for SMN2 splicing correction during the study period.

Free Research Field

小児科学