Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K20027
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Neurosurgery
• Research Institution: Tokyo Women's Medical University
• Principal Investigator: Miteki Yosuke 東京女子医科大学, 医学部, 助教 (30649405)
• Research Collaborator: AKAGAWA hiroyuki
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: CM-AVM / RASA1遺伝子

Outline of Final Research Achievements

The purpose of this reserch is that we reveal the genetic back ground of the Japanese patients with capillary malformation-arteriovenous malformation (CM-AVM).
Whole-exome sequencing in the two probands identified novel heterozygous mutations in RASA1, which were co-segregated with the disease in each family and were not reported in large-scale sequencing databases. There were no other genes commonly disrupted among these probands. RASA1 was a major causative gene even in Japanese patients with CM-AVM.

Free Research Field

脳神経外科学

Academic Significance and Societal Importance of the Research Achievements

本邦においては遺伝子変異解析を行ったCM-AVM 患者の報告は未だ無く、本研究が本邦初の報告となるため、その成果を英文雑誌に投稿し、受領され、現在掲載準備中である。論文掲載により、報告例が少なく情報の少ない当該疾患の存在を人々に広く認知させる一助となり、自然歴や患者マネージメントに係る知見、遺伝カウンセリング体制の整備にも結びついていくことが期待される。さらに将来的には、本研究での遺伝学的知見をもとに遺伝子治療、ゲノム創薬といったテーラーメード医療への応用も目指すことができると考える。