DNA double strand break repair defects and impaired immune and neuron cell differentiations in patients with EAOH caused by APTX mutation.

2016 Fiscal Year Final Research Report

• Project/Area Number: 15K15396
• 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 Shgeaki 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, 小児科学, 教授 (40280961)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: 小児免疫 / アレルギー / 膠原病学

Outline of Final Research Achievements

Immunological analysis was performed on nine patients with early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH). Reduction of naive T cells and B cells, decrease of TREC, a marker of T cell neogenesis, and decrease of KREC, a marker of B cell neogenesis,,were observed in patients with EAOH. These results indicate that DNA double - strand break repair defects, in addition to DNA single - strand break repair defects, occur due to the mutations of APTX , which is a causative gene of EAOH. T cell and B cell developments were impaired in addition to nerve cells in EAOH.

Free Research Field

免疫学