血友病,CRISPR技术 z-bo 2020-09-19 449

　　Patients with hemophilia often live under stress and anxiety. The joints of the patients will break down prematurely, and once the body bleeds, it is difficult to stop the bleeding. Patients with hemophilia lack the ability to produce clotting factors, so any cuts And contusions, if there is no emergency treatment, it will put the patient’s life in danger.

　　One in 5000 newborn boys will suffer from hemophilia A (hemophilia A), and almost half of the patients are thought to be caused by the body’s chromosome inversion; once the body’s cells undergo chromosome inversion, it will cause The sequence of base pairs on the chromosome is reversed, which will cause the gene to not be expressed normally, and the patient's body will lose the coagulation factor VIII gene (F8), which in normal individuals will help the body to promote blood clotting.

　　Recently, in a research paper published in the international journal Cell Stem Cell, researchers from Yonsei University and others conducted research on induced pluripotent stem cells (iPSCs) derived from hemophilia A and hemophilia mice , Found a new method to correct the chromosome inversion that causes hemophilia, and at the same time reverse the loss of clotting factors in the patient's body.

　　In this study, the researchers used induced pluripotent stem cells for the first time for research. Induced pluripotent stem cells have the ability to transform into any type of cell in the body. The researchers collected urine cells from hemophilia patients caused by chromosome inversion, and To create induced pluripotent stem cells, they then used CRISPR-Cas9 nuclease to manipulate the stem cells.

　　CRISPR-Cas9 can modify the function of coagulation factor VIII gene to make it function normally, and the modified iPSCs can be induced to differentiate into mature endothelial cells that can express coagulation factor VIII, and these newly produced endothelial cells can reverse the coagulation factor Deletion of VIII. In order to confirm that the entire procedure is effective, the researchers transplanted the corrected endothelial cells into the body of mice lacking coagulation factor VIII, and found that the mice began to produce coagulation factor VIII after transplantation, which can effectively inhibit hemophilia Onset and manifestation.

　　Researcher Jin-Soo Kim said that we can use CRISPR RGENs technology (RNA-guided engineered nucleases) to repair two recurring large chromosome inversions, and these two chromosome inversions can cause almost half of severe hemophilia cases. This research report clarified for the first time that the use of RGENs technology can repair chromosome inversion or other large-scale chromosome rearrangements.

　　Patients with hemophilia often live under stress and anxiety. The joints of the patients will break down prematurely, and once the body bleeds, it is difficult to stop the bleeding. Patients with hemophilia lack the ability to produce clotting factors, so any cuts And contusions, if there is no emergency treatment, it will put the patient’s life in danger.

　　One in 5000 newborn boys will suffer from hemophilia A (hemophilia A), and almost half of the patients are thought to be caused by the body’s chromosome inversion; once the body’s cells undergo chromosome inversion, it will cause The sequence of base pairs on the chromosome is reversed, which will cause the gene to not be expressed normally, and the patient's body will lose the coagulation factor VIII gene (F8), which in normal individuals will help the body to promote blood clotting.

　　Recently, in a research paper published in the international journal Cell Stem Cell, researchers from Yonsei University and others conducted research on induced pluripotent stem cells (iPSCs) derived from hemophilia A and hemophilia mice , Found a new method to correct the chromosome inversion that causes hemophilia, and at the same time reverse the loss of clotting factors in the patient's body.

　　In this study, the researchers used induced pluripotent stem cells for the first time for research. Induced pluripotent stem cells have the ability to transform into any type of cell in the body. The researchers collected urine cells from hemophilia patients caused by chromosome inversion, and To create induced pluripotent stem cells, they then used CRISPR-Cas9 nuclease to manipulate the stem cells.

　　CRISPR-Cas9 can modify the function of coagulation factor VIII gene to make it function normally, and the modified iPSCs can be induced to differentiate into mature endothelial cells that can express coagulation factor VIII, and these newly produced endothelial cells can reverse the coagulation factor Deletion of VIII. In order to confirm that the entire procedure is effective, the researchers transplanted the corrected endothelial cells into the body of mice lacking coagulation factor VIII, and found that the mice began to produce coagulation factor VIII after transplantation, which can effectively inhibit hemophilia Onset and manifestation.

　　Researcher Jin-Soo Kim said that we can use CRISPR RGENs technology (RNA-guided engineered nucleases) to repair two recurring large chromosome inversions, and these two chromosome inversions can cause almost half of severe hemophilia cases. This research report clarified for the first time that the use of RGENs technology can repair chromosome inversion or other large-scale chromosome rearrangements.