The unidentified mutation of BMPR2 gene using large number of Japanese patient with intractable pulmonary hypertension

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K19424
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Cardiovascular medicine
• Research Institution: Kyorin University
• Principal Investigator: Aimi Yuki 杏林大学, 医学部, 特任助教 (60749696)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 肺動脈性肺高血圧症 / スプライシング変異

Outline of Final Research Achievements

Using large number of samples of Japanese patient with pulmonary arterial hypertension (PAH), I established a method both to define intron structure with restriction digest after amplify the full length with Long PCR in BMPR2 gene and to search for splicing variants with RT-MLPA. By both of established RT-MLPA method and whole exome sequencing, a hidden exon in intron 3 region was identified. Splicing variants including hidden exon was identified by RT-PCR, although it expressed in low level. Although the function of identified splicing variant is unknown, there is a possibility to gain new knowledge by analyzing hidden exon region using more large number of samples.

Free Research Field

循環器病学

Academic Significance and Societal Importance of the Research Achievements

他の多くの遺伝性疾患において遺伝子からタンパク質が作られる際に生じる異常が多数報告されているが、肺動脈性肺高血圧症(PAH）では少数報告されているに留まる。本研究は、PAH発症に関わる原因遺伝子BMPR2の潜在する異常を明らかにするのみならず、より正確で早期の診断や予後予測への発展が期待でき、未知の発症原因の究明に取り組むことが長期的な展望において医療への貢献および医療費削減につながる。