2012 Fiscal Year Final Research Report

Arrhythmogenic right ventricular cardiomyopathy is a molecular model for the status thymicolymphaticus?

Research Project

Project/Area Number	22590643
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Single-year Grants
Section	一般
Research Field	Legal medicine
Research Institution	Hyogo Medical University
Principal Investigator	NISHIO Hajime 兵庫医科大学, 医学部, 教授 (90253260)
Co-Investigator(Kenkyū-buntansha)	TAKAHASHI Motonori 神戸大学, 大学院・医学研究科, 講師 (90509100)
Project Period (FY)	2010 – 2012
Keywords	法医病理学
Research Abstract	Status thymicolymphaticus has been defined as a condition of constitutional anomalies: hypertrophy of lymphoid organs such as the thymus, spleen, and lymph nodes, and hypoplasia of cardiovascular system. The condition is sometimes terminated by sudden death. In this study, we examined whether the R420W of the RYR2, which was found in sudden unexplained death cases, may be associated with the phenotypic characteristics of the status thymicolymphaticus by generating the knock-in mice model carrying the mutation. The model animals showed significant increase in organ weights of the thymus and spleen compared to those from the wild types.The findings support the idea that R420W mutation of the RYR2 may be associated with the phenotypes of the status thymicolymphaticus.

(3 results)