Eliminate mitochondrial diseases by gene editing in germ-line cells and embryos

Abstract

Nuclease-based gene editing technologies have opened up opportunities for correcting human genetic diseases. For the first time, scientists achieved targeted gene editing of mitochondrial DNA in mouse oocytes fused with patient cells. This fascinating progression may encourage the development of novel therapy for human maternally inherent mitochondrial diseases.

References

1 Hai T, Teng F, Guo R, Li W, Zhou Q (2014) One-step generation of knockout pigs by zygote injection of CRISPR/Cas system. Cell Res24: 372-375<DOI OutputMedium="All">10.1038/c<?Pub Caret?>r.2014.11</DOI>

2 Hu W, Kaminski R, Yang F, Zhang Y, Cosentino L, Li F, Luo B, Alvarez-Carbonell D, Garcia-Mesa Y, Karn J (2014) RNAdirected gene editing specifically eradicates latent and prevents new HIV-1 infection. Proc Natl Acad Sci U S A111: 11461-11466

3 Li M, Suzuki K, Qu J, Saini P, Dubova I, Yi F, Lee J, Sancho-Martinez I, Liu GH, Izpisua Belmonte JC (2011) Efficient correction of hemoglobinopathy-causing mutations by homologous recombination in integration-free patient iPSCs. Cell Res21: 1740-1744

4 Liang P, Xu Y, Zhang X, Ding C, Huang R, Zhang Z, Lv J, Xie X, Chen Y, Li Y (2015) CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes. Protein Cell6: 363-372

5 Liu GH, Suzuki K, Qu J, Sancho-Martinez I, Yi F, Li M, Kumar S, Nivet E, Kim J, Soligalla RD (2011) Targeted gene correction of laminopathy-associated LMNA mutations in patient-specific iPSCs. Cell Stem Cell8: 688-694

6 Liu GH, Qu J, Suzuki K, Nivet E, Li M, Montserrat N, Yi F, Xu X, Ruiz S, Zhang W (2012) Progressive degeneration of human neural stem cells caused by pathogenic LRRK2. Nature491: 603-607

7 Liu GH, Suzuki K, Li M, Qu J, Montserrat N, Tarantino C, Gu Y, Yi F, Xu X, Zhang W (2014) Modelling Fanconi anemia pathogenesis and therapeutics using integration-free patient-derived iPSCs. Nat Commun5: 4330

8 Mandal PK, Ferreira LM, Collins R, Meissner TB, Boutwell CL, Friesen M, Vrbanac V, Garrison BS, Stortchevoi A, Bryder D (2014) Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9. Cell Stem Cell15: 643-652

9 Niu Y, Shen B, Cui Y, Chen Y, Wang J, Wang L, Kang Y, Zhao X, Si W, Li W (2014) Generation of gene-modified cynomolgus monkey via Cas9/RNA-mediated gene targeting in one-cell embryos. Cell156: 836-843

10 Ousterout DG, Kabadi AM, Thakore PI, Majoros WH, Reddy TE, Gersbach CA (2015) Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy. Nat Commun6: 6244

11 Paull D, Emmanuele V, Weiss KA, Treff N, Stewart L, Hua H, Zimmer M, Kahler DJ, Goland RS, Noggle SA (2013) Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants. Nature493: 632-637

12 Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J (2015) Selective elimination of mitochondrial mutations in the germline by genome editing. Cell161: 459-469

13 Smith C, Gore A, Yan W, Abalde-Atristain L, Li Z, He C, Wang Y, Brodsky RA, Zhang K, Cheng L (2014) Whole-genome sequencing analysis reveals high specificity of CRISPR/Cas9 and TALEN-based genome editing in human iPSCs. Cell Stem Cell15: 12-13

14 Suzuki K, Yu C, Qu J, Li M, Yao X, Yuan T, Goebl A, Tang S, Ren R, Aizawa E (2014) Targeted gene correction minimally impacts whole-genome mutational load in human-disease-specific induced pluripotent stem cell clones. Cell Stem Cell15: 31-36

15 Tachibana M, Amato P, Sparman M, Woodward J, Sanchis DM, Ma H, Gutierrez NM, Tippner-Hedges R, Kang E, Lee HS (2013) Towards germline gene therapy of inherited mitochondrial diseases. Nature493: 627-631

16 Taylor RW, Turnbull DM (2005) Mitochondrial DNA mutations in human disease. Nat Rev Genet6: 389-402

17 Veres A, Gosis BS, Ding Q, Collins R, Ragavendran A, Brand H, Erdin S, Cowan CA, Talkowski ME, Musunuru K (2014) Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by wholegenome sequencing. Cell Stem Cell15: 27-30

18 Wang H, Yang H, Shivalila CS, Dawlaty MM, Cheng AW, Zhang F, Jaenisch R (2013) One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering. Cell153: 910-918

19 Wang T, Sha H, Ji D, Zhang HL, Chen D, Cao Y, Zhu J (2014) Polar body genome transfer for preventing the transmission of inherited mitochondrial diseases. Cell157: 1591-1604

20 Xie F, Ye L, Chang JC, Beyer AI, Wang J, Muench MO, Kan YW (2014) Seamless gene correction of beta-thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 and piggyBac. Genome Res24: 1526-1533

21 Xu X, Qu J, Suzuki K, Li M, Zhang W, Liu GH, Izpisua Belmonte JC (2012) Reprogramming based gene therapy for inherited red blood cell disorders. Cell Res22: 941-944

22 Xu X, Duan S, Yi F, Ocampo A, Liu GH, Izpisua Belmonte JC (2013) Mitochondrial regulation in pluripotent stem cells. Cell Metab18: 325-332

23 Yang H, Wang H, Shivalila CS, Cheng AW, Shi L, Jaenisch R (2013) One-step generation of mice carrying reporter and conditional alleles by CRISPR/Cas-mediated genome engineering. Cell154: 1370-1379

24 Yang L, Grishin D, Wang G, Aach J, Zhang CZ, Chari R, Homsy J, Cai X, Zhao Y, Fan JB (2014) Targeted and genome-wide sequencing reveal single nucleotide variations impacting specificity of Cas9 in human stem cells. Nat Commun5: 5507