The battle to prevent the transmission of mitochondrial DNA disease: Is karyoplast transfer the answer

Gene Therapy

Volumn 17, Issue 2, 2010, Pages 147-149

  St John, J C ^a   Campbell, K H S ^b  

^a MONASH UNIVERSITY   (Australia)

^b UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MITOCHONDRIAL DNA;

CELL DIVISION; CELL NUCLEUS TRANSPLANTATION; DISEASE CONTROL; DISEASE TRANSMISSION; DNA CONTENT; DNA ISOLATION; DNA REPLICATION; EMBRYO DEVELOPMENT; EPIGENETICS; FETUS DEVELOPMENT; GENE REARRANGEMENT; GENETIC TRANSFECTION; GERMINAL VESICLE; HUMAN; MITOCHONDRIAL DNA DISORDER; MOLECULAR CLONING; NONHUMAN; NOTE; OOCYTE DEVELOPMENT; PRIORITY JOURNAL; SPINDLE CELL;

ANIMALS; EPIGENESIS, GENETIC; HUMANS; MITOCHONDRIAL DISEASES; MUTATION; NUCLEAR TRANSFER TECHNIQUES; REPRODUCTIVE TECHNIQUES, ASSISTED;

EID: 76749145539     PISSN: 09697128     EISSN: 14765462     Source Type: Journal    
DOI: 10.1038/gt.2009.164     Document Type: Note

References (26)

1. Giles RE, Blanc H, Cann HM, Wallace DC. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 1980; 77: 6715-6719.
2. Shoubridge EA, Wai T. Mitochondrial DNA and the mammalian oocyte. Curr Top Dev Biol 2007; 77: 87-111.
3. Blok RB, Gook DA, Thorburn DR, Dahl HH. Skewed segregation of the mtDNA nt 8993 (T-G) mutation in human oocytes. Am J Hum Genet 1997; 60: 1495-1501.
4. Dean NL, Battersby BJ, Ao A, Gosden RG, Tan SL, Shoubridge EA et al. Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases. Mol Hum Reprod 2003; 9: 631-638.
5. Bao S, Ushijima H, Hirose A, Aono F, Ono Y, Kono T. Development of bovine oocytes reconstructed with a nucleus from growing stage oocytes after fertilization in vitro. Theriogenology 2003; 59: 1231-1239.
6. Bai ZD, Liu K, Wang XY. Developmental potential of aged oocyte rescued by nuclear transfer following parthenoge-netic activation and in vitro fertilization. Mol Reprod Dev 2006; 73: 1448-1453.
7. Wakayama S, Thuan NV, Kishigami S, Ohta H, Mizutani E, Hikichi T et al. Production of offspring from one-day-old oocytes stored at room temperature. J Reprod Dev 2004; 50: 627-637.
8. Wang MK, Chen DY, Liu JL, Li GP, Sun QY. In vitro fertilisation of mouse oocytes reconstructed by transfer of metaphase II chromosomes results in live births. Zygote 2001; 9: 9-14.
9. Tachibana M, Sparman M, Sritanaudom-chai H, Ma H, Clepper L, Woodward J et al. Mitochondrial gene replacement in primate offspring and embryonic stem cells. Nature 2009; 461: 367-372.
10. Meirelles FV, Smith LC. Mitochondrial genotype segregation in a mouse hetero-plasmic lineage produced by embryonic karyoplast transplantation. Genetics 1997; 145: 445-451.
11. Sato A, Kono T, Nakada K, Ishikawa K, Inoue S, Yonekawa H et al. Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantation. Proc Natl Acad Sci USA 2005; 102: 16765-16770.
12. St John JC, Lloyd RE, Bowles EJ, Thomas EC, El Shourbagy S. The consequences of nuclear transfer for mammalian foetal development and offspring survival. A mitochondrial DNA perspective. Reproduction 2004; 127: 631-641.
13. Spikings EC, Alderson J, John JC. Regulated mitochondrial DNA replication during oocyte maturation is essential for successful porcine embryonic development. Biol Reprod 2007; 76: 327-335.
14. Bowles EJ, Tecirlioglu RT, French AJ, Holland MK, St John JC. Mitochondrial DNA transmission and transcription after somatic cell fusion to one or more cytoplasts. Stem Cells 2008; 26: 775-782.
15. Lloyd RE, Lee JH, Alberio R, Bowles EJ, Ramalho-Santos J, Campbell KH et al. Aberrant nucleo-cytoplasmic cross-talk results in donor cell mtDNA persistence in cloned embryos. Genetics 2006; 172: 2515-2527.
16. Polejaeva IA, Chen SH, Vaught TD, Page RL, Mullins J, Ball S et al. Cloned pigs produced by nuclear transfer from adult somatic cells. Nature 2000; 407: 86-90.
17. St John JC, Moffatt O, D'Souza N. Aberrant heteroplasmic transmission of mtDNA in cloned pigs arising from double nuclear transfer. Mol Reprod Dev 2005; 72: 450-460.
18. Steinborn R, Zakhartchenko V, Jelyazkov J, Klein D, Wolf E, Müller M et al. Composition of parental mitochondrial DNA in cloned bovine embryos. FEBS Lett 1998; 426: 352-356.
19. Steinborn R, Zakhartchenko V, Wolf E, Muller M, Brem G. Non-balanced mix of mitochondrial DNA in cloned cattle produced by cytoplast-blastomere fusion. FEBS Lett 1998; 426: 357-361.
20. St John JC, Schatten G. Paternal mito-chondrial DNA transmission during nonhuman primate nuclear transfer. Genetics 2004; 167: 897-905.
21. Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 2002; 347: 576-580.
22. Bowles EJ, Lee JH, Alberio R, Lloyd RE, Stekel D, Campbell KH et al. Contrasting effects of in vitro fertilization and nuclear transfer on the expression of mtDNA replication factors. Genetics 2007; 176: 1511-1526.
23. DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 2003; 72: 156-160.
24. Cox GF, Burger J, Lip V, Mau UA, Sperling K, Wu BL et al. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet 2002; 71: 162-164.
25. Orstavik KH, Eiklid K, van der Hagen CB, Spetalen S, Kierulf K, Skjeldal O et al. Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. Am J Hum Genet 2003; 72: 218-219.
26. Gicquel C, Gaston V, Mandelbaum J, Siffroi JP, Flahault A, Le Bouc Y. In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet 2003; 72: 1338-1341.