Analysis of the pre-mRNA regulation by survival motor neuron protein

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461555
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Microbial Chemistry Research Foundation
• Principal Investigator: ARAKAWA Masayuki 公益財団法人微生物化学研究会, 微生物化学研究所, 研究員 (90398868)
• Co-Investigator(Renkei-kenkyūsha): SAITO Kayoko 東京女子医科大学, 医学部, 教授 (90138834)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 脊髄性筋萎縮症 / mRNA前駆体 / スプライシング / 転写

Outline of Final Research Achievements

Spinal muscular atrophy (SMA), a genetic neuromuscular disorder, leads to motor neuron degeneration. SMA is caused by the reduction of the survival motor neuron (SMN)protein resulting from the homozygous deletion or mutation of the survival motor neuron 1(SMN1) gene and abnormal splicing of the SMN2 gene that is a highly homologous copy of SMN1. SMN2 is unable to compensate for defects in SMN1. This study was focused on the SMN2 pre-mRNA regulation of SMN protein in SMA patient-derived fibroblasts. By the overexpression of the exogenous GFP-SMN, endogenous SMN protein and total SMN2 mRNA expression were increased in SMA fibroblasts. These results suggest that SMN protein expression level have effects on the endogenous SMN2 gene transcription.

Free Research Field

細胞生物学