Recent Therapeutic Gene Editing Applications to Genetic Disorders

被引：19

作者：

Deneault, Eric ^{[1
]}

机构：

[1] Hlth Canada, Ctr Oncol Radiopharmaceut & Res, Biol & Radiopharmaceut Drugs Directorate, Regulatory Res Div,Hlth Prod & Food Branch, Ottawa K1A 0K9, ON, Canada

来源：

CURRENT ISSUES IN MOLECULAR BIOLOGY | 2024年 / 46卷 / 05期

关键词：

gene editing; CRISPR; genetic disorders; off-target; DOUBLE-STRAND BREAKS; MOUSE MODEL; HYPERTROPHIC CARDIOMYOPATHY; ESCHERICHIA-COLI; GENOMIC DNA; IN-VITRO; BASE; RNA; CRISPR; MUSCLE;

D O I：

10.3390/cimb46050255

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Recent years have witnessed unprecedented progress in therapeutic gene editing, revolutionizing the approach to treating genetic disorders. In this comprehensive review, we discuss the progression of milestones leading to the emergence of the clustered regularly interspaced short palindromic repeats (CRISPR)-based technology as a powerful tool for precise and targeted modifications of the human genome. CRISPR-Cas9 nuclease, base editing, and prime editing have taken center stage, demonstrating remarkable precision and efficacy in targeted ex vivo and in vivo genomic modifications. Enhanced delivery systems, including viral vectors and nanoparticles, have further improved the efficiency and safety of therapeutic gene editing, advancing their clinical translatability. The exploration of CRISPR-Cas systems beyond the commonly used Cas9, such as the development of Cas12 and Cas13 variants, has expanded the repertoire of gene editing tools, enabling more intricate modifications and therapeutic interventions. Outstandingly, prime editing represents a significant leap forward, given its unparalleled versatility and minimization of off-target effects. These innovations have paved the way for therapeutic gene editing in a multitude of previously incurable genetic disorders, ranging from monogenic diseases to complex polygenic conditions. This review highlights the latest innovative studies in the field, emphasizing breakthrough technologies in preclinical and clinical trials, and their applications in the realm of precision medicine. However, challenges such as off-target effects and ethical considerations remain, necessitating continued research to refine safety profiles and ethical frameworks.

引用

页码：4147 / 4185

页数：39

共 162 条

[1] C2c2 is a single-component programmable RNA-guided RNA-targeting CRISPR effector [J].

Abudayyeh, Omar O. ;

Gootenberg, Jonathan S. ;

Konermann, Silvana ;

Joung, Julia ;

Slaymaker, Ian M. ;

Cox, David B. T. ;

Shmakov, Sergey ;

Makarova, Kira S. ;

Semenova, Ekaterina ;

Minakhin, Leonid ;

Severinov, Konstantin ;

Regev, Aviv ;

Lander, Eric S. ;

Koonin, Eugene V. ;

Zhang, Feng .

SCIENCE, 2016, 353 (6299)

[2] CasPEDIA Database: a functional classification system for class 2 CRISPR-Cas enzymes [J].

Adler, Benjamin A. ;

Trinidad, Marena, I ;

Bellieny-Rabelo, Daniel ;

Zhang, Elaine ;

Karp, Hannah M. ;

Skopintsev, Petr ;

Thornton, Brittney W. ;

Weissman, Rachel F. ;

Yoon, Peter H. ;

Chen, Linxing ;

Hessler, Tomas ;

Eggers, Amy R. ;

Colognori, David ;

Boger, Ron ;

Doherty, Erin E. ;

Tsuchida, Connor A. ;

Tran, Ryan, V ;

Hofman, Laura ;

Shi, Honglue ;

Wasko, Kevin M. ;

Zhou, Zehan ;

Xia, Chenglong ;

Al-Shimary, Muntathar J. ;

Patel, Jaymin R. ;

Thomas, Vienna C. J. X. ;

Pattali, Rithu ;

Kan, Matthew J. ;

Vardapetyan, Anna ;

Yang, Alana ;

Lahiri, Arushi ;

Maxwell, Michaela F. ;

Murdock, Andrew G. ;

Ramit, Glenn C. ;

Henderson, Hope R. ;

Calvert, Roland W. ;

Bamert, Rebecca S. ;

Knott, Gavin J. ;

Lapinaite, Audrone ;

Pausch, Patrick ;

Cofsky, Joshua C. ;

Sontheimer, Erik J. ;

Wiedenheft, Blake ;

Fineran, Peter C. ;

Brouns, Stan J. J. ;

Sashital, Dipali G. ;

Thomas, Brian C. ;

Brown, Christopher T. ;

Goltsman, Daniela S. A. ;

Barrangou, Rodolphe ;

Siksnys, Virginius .

NUCLEIC ACIDS RESEARCH, 2023, 52 (D1) :D590-D596

[3] Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy [J].

Amoasii, Leonela ;

Hildyard, John C. W. ;

Li, Hui ;

Sanchez-Ortiz, Efrain ;

Mireault, Alex ;

Caballero, Daniel ;

Harron, Rachel ;

Stathopoulou, Thaleia-Rengina ;

Massey, Claire ;

Shelton, John M. ;

Bassel-Duby, Rhonda ;

Piercy, Richard J. ;

Olson, Eric N. .

SCIENCE, 2018, 362 (6410) :86-90

[4] Programmable deletion, replacement, integration and inversion of large DNA sequences with twin prime editing [J].

Anzalone, Andrew, V ;

Gao, Xin D. ;

Podracky, Christopher J. ;

Nelson, Andrew T. ;

Koblan, Luke W. ;

Raguram, Aditya ;

Levy, Jonathan M. ;

Mercer, Jaron A. M. ;

Liu, David R. .

NATURE BIOTECHNOLOGY, 2022, 40 (05) :731-+

[5] Search-and-replace genome editing without double-strand breaks or donor DNA [J].

Anzalone, Andrew V. ;

Randolph, Peyton B. ;

Davis, Jessie R. ;

Sousa, Alexander A. ;

Koblan, Luke W. ;

Levy, Jonathan M. ;

Chen, Peter J. ;

Wilson, Christopher ;

Newby, Gregory A. ;

Raguram, Aditya ;

Liu, David R. .

NATURE, 2019, 576 (7785) :149-+

[6] Base editing rescue of spinal muscular atrophy in cells and in mice [J].

Arbab, Mandana ;

Matuszek, Zaneta ;

Kray, Kaitlyn M. ;

Du, Ailing ;

Newby, Gregory A. ;

Blatnik, Anton J. ;

Raguram, Aditya ;

Richter, Michelle F. ;

Zhao, Kevin T. ;

Levy, Jonathan M. ;

Shen, Max W. ;

Arnold, W. David ;

Wang, Dan ;

Xie, Jun ;

Gao, Guangping ;

Burghes, Arthur H. M. ;

Liu, David R. .

SCIENCE, 2023, 380 (6642)

[7] Escherichia coli DNA polymerase III ε subunit increases Moloney murine leukemia virus reverse transcriptase fidelity and accuracy of RT-PCR procedures [J].

Arezi, Bahram ;

Hogrefe, Holly H. .

ANALYTICAL BIOCHEMISTRY, 2007, 360 (01) :84-91

[8] In vivo delivery of CRISPR-Cas9 therapeutics: Progress and challenges [J].

Behr, Matthew ;

Zhou, Jing ;

Xu, Bing ;

Zhang, Hongwei .

ACTA PHARMACEUTICA SINICA B, 2021, 11 (08) :2150-2171

[9] FokI dimerization is required for DNA cleavage [J].

Bitinaite, J ;

Wah, DA ;

Aggarwal, AK ;

Schildkraut, I .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (18) :10570-10575

[10] In vivo prime editing of a metabolic liver disease in mice [J].

Boeck, Desiree ;

Rothgangl, Tanja ;

Villiger, Lukas ;

Schmidheini, Lukas ;

Matsushita, Mai ;

Mathis, Nicolas ;

Ioannidi, Eleonora ;

Rimann, Nicole ;

Grisch-Chan, Hiu Man ;

Kreutzer, Susanne ;

Kontarakis, Zacharias ;

Kopf, Manfred ;

Thoeny, Beat ;

Schwank, Gerald .

SCIENCE TRANSLATIONAL MEDICINE, 2022, 14 (636)

← 1 2 3 4 5 6 7 8 9 10 →