Elucidation of the molecular pathogenesis of mitochondrial disease

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K09973
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Juntendo University (2018); Saitama Medical University (2016-2017)
• Principal Investigator: Kishita Yoshihito 順天堂大学, 医学(系)研究科(研究院), 助教 (20634398)
• Research Collaborator: OKAZAKI Yasushi ; OHTAKE Akira ; MURAYAMA Kei
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: ミトコンドリア / ミトコンドリア病 / 疾患原因遺伝子 / 遺伝性疾患

Outline of Final Research Achievements

Mitochondrial diseases are inherited metabolic diseases that occur when mitochondria fail to produce enough energy. In the field of pediatrics, causes of mitochondrial diseases and affected organs are particularly diverse, and the mechanism of pathogenesis may differ depending on the causative gene. To elucidate the pathogenic mechanism of mitochondrial diseases, I analyzed the molecular basis of mitochondrial diseases and searched for novel disease-causing genes. I focused on filamin genes that have been identified by previous whole exome sequencing. I have seen the abnormality of actin organization in filamin deficient cells. I have reported C1QBP and TOP3A as novel disease-causing genes.

Free Research Field

遺伝・先天異常学

Academic Significance and Societal Importance of the Research Achievements

ミトコンドリア病は先天代謝異常症のなかで最も患者数の多い疾患であるが、現在までにミトコンドリア病の有効な治療法が確立されておらず、また発症原因やその分子メカニズムも十分に明らかになっていない。基盤的な分子メカニズムの理解は創薬や治療法開発に不可欠な要素であるが、本研究では新たな疾患発症メカニズムの一端を明らかにすることができた。疾患の基盤的分子メカニズムの理解が今後、創薬や治療の分子標的を見出す研究へと展開されることが期待される。