Identification and functional analysis of the genes critical for B cell terminal differentiation in ICF syndrome.

2014 Fiscal Year Final Research Report

• Project/Area Number: 25670484
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: National Defense Medical College
• Principal Investigator: NONOYAMA Shigeaki 防衛医科大学校(医学教育部医学科進学課程及び専門課程、動物実験施設、共同利用研究, 医学教育部医学科専門課程, 教授 (40280961)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 小児免疫 / アレルギー / 膠原病学

Outline of Final Research Achievements

ICF syndrome is characterized by immunodeficiency and a genetic disorder caused by aberrant DNA methylation.　Its immunodeficiency is known to be derived from disability of B cells maturation.
So, we have tried to compare the methylation status of B cells of ICF syndrome patients and healthy controls. As a result, it was possible to clarify the group of genes dramatically shows the difference. Also, we have tried to compare the methylation status of immature B cells and mature B cells in healthy controls. As a result the difference has become to be also clear. We have also tried to do RNA analysis. As a result the extent of gene expression has become also clear.
By combining these results of three analyses, we succeeded to narrow down genes that are closely responsible for the maturation of B cells.

Free Research Field

免疫