Establishment of minimally invasive diagnostic method for malignant hyperthermia using fibroblasts

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K18298
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 55050:Anesthesiology-related
• Research Institution: Hiroshima University
• Principal Investigator: Kondo Takashi 広島大学, 病院(医), 講師 (20711774)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 悪性高熱症

Outline of Final Research Achievements

To perform a less invasive functional test for malignant hyperthermia (MH), which requires diagnosis by muscle biopsy, we use a transcription factor (MyoD1) that induces the differentiation of fibroblasts into skeletal muscle cells (myotube cells). We created myotube cells by introducing MyoD1 into skin fibroblasts. Next, a calcium sensitivity test was performed on myotube cells prepared from fibroblasts, and a comparison was made with a calcium susceptibility test on myotube cells in MH patients.
As a result of the examination, the calcium sensitivity of myotube cells derived from MH patients was significantly higher than that of myotube cells prepared from normal fibroblasts. The results of this study showed the possibility that myotube cells prepared from fibroblasts could be used for MH function testing.

Free Research Field

麻酔科学

Academic Significance and Societal Importance of the Research Achievements

悪性高熱症（MH）の機能診断のために必要な筋生検は侵襲が大きく、特に小児においては全身麻酔が必要となるため検査を行うことが困難な実態にある。
本研究成果により、正常ヒト線維芽細胞を分化させて作成した筋細胞によって機能解析を行うことができることが示された。現状では、MH患者の皮膚線維芽細胞から分化させた筋細胞を用いた機能解析は実用化されていないが、本研究の方法による皮膚を利用する検査法が確立すれば、従来の筋生検を必要とする検査よりも患者に与える侵襲を軽減することができ、MHの検査が従来よりも普及することが期待される。