Molecular bases and their regulations of mRNA aberrations in neuromuscular transmission defects and other muscular diseases

2014 Fiscal Year Final Research Report

• Project/Area Number: 24390221
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: Nagoya University
• Principal Investigator: OHNO Kinji 名古屋大学, 医学(系)研究科(研究院), 教授 (80397455)
• Co-Investigator(Kenkyū-buntansha): MASUDA Akio 名古屋大学, 大学院医学系研究科, 准教授 (10343203) ; ITO Mikako 名古屋大学, 大学院医学系研究科, 助教 (60444402) ; OHKAWARA Bisei 名古屋大学, 高等研究院, 特任講師 (80589606)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 先天性筋無力症候群 / 神経筋接合部 / RSPO2 / LGR5 / LRP4

Outline of Final Research Achievements

Laser capture microdissection of mouse spinal motor neurons revealed that Rspo2 is highly expressed in spinal motor neurons. Rspo2 induces acetylcholine receptor (AChR) clustering, which is ~80% as potent as agrin. We propose that Rspo2 is an essential AChR clustering-inducing molecule after agrin.
We identified that mutations in LRP4 cause congenital myasthenic syndrome. Mutations in the 3rd beta-propeller domain of LRP4 cause either a defect in neuromuscular signal transmission or a defect in osteogenesis in a position-specific manner.

Free Research Field

神経遺伝情報学分野