CRISPR/Cas9基因编辑技术在心血管领域中的研究进展
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摘要
CRISPR/Cas9基因编辑技术以其独特的优势已经在生物医学领域中被广泛应用。利用该技术在人类心血管疾病的相关研究如:心肌细胞水平、先天性心脏病动物模型建立、冠心病高危因素、心律失常、心力衰竭和心肌病等方面已经取得了很大进步,但目前的基因编辑技术在实际运用中仍然面临着许多问题。
The CRISPR/Cas9 gene editing technology has been widely used in the biomedical field due to its unique advantages. The use of this technology has made great progress in related research on cardiovascular diseases such as cardiomyocyte levels, establishment of animal models of congenital heart disease, risk factors for coronary heart disease, arrhythmia, heart failure and cardiomyopathy. However, it also faces many challenges in terms of practical application.
The CRISPR/Cas9 gene editing technology has been widely used in the biomedical field due to its unique advantages. The use of this technology has made great progress in related research on cardiovascular diseases such as cardiomyocyte levels, establishment of animal models of congenital heart disease, risk factors for coronary heart disease, arrhythmia, heart failure and cardiomyopathy. However, it also faces many challenges in terms of practical application.
引文
[1] Cong L,Ran FA,Cox D,et al.Multiplex genome engineering using CRISPR/Cas systems[J].Science,2013,339:819-823.
[2] Liu H,Wang L,Luo Y.Blossom of CRISPR technologies and applications in disease treatment[J].Synth Syst Biotechnol,2018,3:217-228.
[3] Balakumar P,Maung UK,Jagadeesh G.Prevalence and prevention of cardiovascular disease and diabetes mellitus[J].Pharmacol Res,2016,113:600-609.
[4] 甘世虎,崔晓腾,马锦征,等.利用CRISPR-Cas9基因编辑技术敲除H9c2细胞Tudor-SN基因对细胞周期的阻滞及增殖的抑制[J].中国生物化学与分子生物学报,2018,34:754-759.
[5] Jortveit J,?yen N,Leirgul E,et al.Trends in mortality of congenital heart defects[J].Congenit Heart Dis,2016,11:160-168.
[6] 桑子超,曲秀霞,杨子鹤,等.利用CRISPR/CAS9基因敲除技术研究FBLN7 对小鼠心脏发育过程的影响[J].中国分子心脏病学杂志,2017,17:1988-1991.
[7] Ang YS,Rivas RN,Ribeiro AJS,et al.Disease model of GATA4 mutation reveals transcription factor cooperativity in human cardiogenesis[J].Cell,2016,167:1734-1749.
[8] Cohen JC,Boerwinkle E,Mosley TH,et al.Sequence variations in PCSK9,low LDL,and protection against coronary heart disease[J].N Engl J Med,2006,354:1264-1272.
[9] Wang X,Raghavan A,Chen T,et al.CRISPR-Cas9 Targeting of PCSK9 in human hepatocytes in vivo-brief report[J].Arterioscler Thromb Vasc Biol,2016,36:783-786.
[10] Chadwick AC,Wang X,Musunuru K.In vivo base editing of PCSK9 (proprotein convertase subtilisin/kexin type 9) as a therapeutic alternative to genome editing[J].Arterioscler Thromb Vasc Biol,2017,37:1741-1747.
[11] Wulff AB,Nordestgaard BG,Tybjaerg-Hansen A.APOC3 loss-of-function mutations,remnant cholesterol,low-density lipoprotein cholesterol,and cardiovascular risk:mediation-and meta-analyses of 137895 individuals[J].Arterioscler Thromb Vasc Biol,2018,38:660-668.
[12] Liang P,Sallam K,Wu H,et al.Patient specific and genome-edited induced pluripotent stem cell-derived cardiomyocytes elucidate single-cell phenotype of brugada syndrome[J].J Am Coll Cardiol,2016,68:2086-2096.
[13] Yamamoto Y,Makiyama T,Harita T,et al.Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation[J].Hum Mol Genet,2017,26:1670-1677.
[14] Xie C,Zhang Y,Song L,et al.Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome[J].Cell Res,2016,26:1099-1111.
[15] Kyrychenko V,Kyrychenko S,Tiburcy M,et al.Functional correction of dystrophin actin binding domain mutations by genome editing[J].JCI Insight,2017,2:1-16.
[16] Doench JG,Fusi N,Sullender M,et al.Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9[J].Nat Biotechnol,2016,34:184-191.
[17] Tsai SQ,Joung JK.Defining and improving the genome-wide specificities of CRISPR-Cas9 nucleases[J].Nat Rev Genet,2016,17:300-312.
[18] Kimberland ML,Hou W,Alfonso-Pecchio A,et al.Strategies for controlling CRISPR/Cas9 off-target effects and biological variations in mammalian genome editing experiments[J].J Biotechnol,2018,284:91-101.
[19] Slaymaker Im GL,Zetsche B,Scott DA,et al.Rationally engineered Cas9 nucleases with improved specificity[J].Science,2016,351:84-88.
[20] Shin J,Jiang F,Liu J,et al.Disabling Cas9 by an anti-CRISPR DNA mimic[J].Science Adv,2017,3:e1701620.doi:10.1126/sciadv.1701620.
[21] Christidi E,Huang H,Brunham LR.CRISPR/Cas9-mediated genome editing in human stem cell-derived cardiomyocytes:Applications for cardiovascular disease modelling and cardiotoxicity screening[J].Drug Discov Today Technol,2018,28:13-21.
[2] Liu H,Wang L,Luo Y.Blossom of CRISPR technologies and applications in disease treatment[J].Synth Syst Biotechnol,2018,3:217-228.
[3] Balakumar P,Maung UK,Jagadeesh G.Prevalence and prevention of cardiovascular disease and diabetes mellitus[J].Pharmacol Res,2016,113:600-609.
[4] 甘世虎,崔晓腾,马锦征,等.利用CRISPR-Cas9基因编辑技术敲除H9c2细胞Tudor-SN基因对细胞周期的阻滞及增殖的抑制[J].中国生物化学与分子生物学报,2018,34:754-759.
[5] Jortveit J,?yen N,Leirgul E,et al.Trends in mortality of congenital heart defects[J].Congenit Heart Dis,2016,11:160-168.
[6] 桑子超,曲秀霞,杨子鹤,等.利用CRISPR/CAS9基因敲除技术研究FBLN7 对小鼠心脏发育过程的影响[J].中国分子心脏病学杂志,2017,17:1988-1991.
[7] Ang YS,Rivas RN,Ribeiro AJS,et al.Disease model of GATA4 mutation reveals transcription factor cooperativity in human cardiogenesis[J].Cell,2016,167:1734-1749.
[8] Cohen JC,Boerwinkle E,Mosley TH,et al.Sequence variations in PCSK9,low LDL,and protection against coronary heart disease[J].N Engl J Med,2006,354:1264-1272.
[9] Wang X,Raghavan A,Chen T,et al.CRISPR-Cas9 Targeting of PCSK9 in human hepatocytes in vivo-brief report[J].Arterioscler Thromb Vasc Biol,2016,36:783-786.
[10] Chadwick AC,Wang X,Musunuru K.In vivo base editing of PCSK9 (proprotein convertase subtilisin/kexin type 9) as a therapeutic alternative to genome editing[J].Arterioscler Thromb Vasc Biol,2017,37:1741-1747.
[11] Wulff AB,Nordestgaard BG,Tybjaerg-Hansen A.APOC3 loss-of-function mutations,remnant cholesterol,low-density lipoprotein cholesterol,and cardiovascular risk:mediation-and meta-analyses of 137895 individuals[J].Arterioscler Thromb Vasc Biol,2018,38:660-668.
[12] Liang P,Sallam K,Wu H,et al.Patient specific and genome-edited induced pluripotent stem cell-derived cardiomyocytes elucidate single-cell phenotype of brugada syndrome[J].J Am Coll Cardiol,2016,68:2086-2096.
[13] Yamamoto Y,Makiyama T,Harita T,et al.Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation[J].Hum Mol Genet,2017,26:1670-1677.
[14] Xie C,Zhang Y,Song L,et al.Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome[J].Cell Res,2016,26:1099-1111.
[15] Kyrychenko V,Kyrychenko S,Tiburcy M,et al.Functional correction of dystrophin actin binding domain mutations by genome editing[J].JCI Insight,2017,2:1-16.
[16] Doench JG,Fusi N,Sullender M,et al.Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9[J].Nat Biotechnol,2016,34:184-191.
[17] Tsai SQ,Joung JK.Defining and improving the genome-wide specificities of CRISPR-Cas9 nucleases[J].Nat Rev Genet,2016,17:300-312.
[18] Kimberland ML,Hou W,Alfonso-Pecchio A,et al.Strategies for controlling CRISPR/Cas9 off-target effects and biological variations in mammalian genome editing experiments[J].J Biotechnol,2018,284:91-101.
[19] Slaymaker Im GL,Zetsche B,Scott DA,et al.Rationally engineered Cas9 nucleases with improved specificity[J].Science,2016,351:84-88.
[20] Shin J,Jiang F,Liu J,et al.Disabling Cas9 by an anti-CRISPR DNA mimic[J].Science Adv,2017,3:e1701620.doi:10.1126/sciadv.1701620.
[21] Christidi E,Huang H,Brunham LR.CRISPR/Cas9-mediated genome editing in human stem cell-derived cardiomyocytes:Applications for cardiovascular disease modelling and cardiotoxicity screening[J].Drug Discov Today Technol,2018,28:13-21.