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Preventing the transmission of mitochondrial DNA disorders: selecting the good guys or kicking out the bad guys Hubert J.M. Smeets Reproductive BioMedicine Online Volume 27, Issue 6, Pages (December 2013) DOI: /j.rbmo Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions
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Figure 1 Preimplantation genetic diagnosis (PGD) for a carrier of the m.3243A>G mutation. (A) The pedigree of the family with an affected mother and an unaffected daughter with the mutation load in different tissues. (B) The analysis of five embryos during a PGD cycle; despite the high-mutation load in the carrer, one of the embryos is practically mutation-free (∼1% mutation load). (C) The non-transferred embryos were dissected and individual cells were analysed; in general, individual cells reflect the entire embryos, although single outliers were observed (data not shown). Bars=100μm. Reproductive BioMedicine Online , DOI: ( /j.rbmo ) Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions
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Figure 2 Estimated probability of being affected at a certain mtDNA mutation level in muscle (logistic regression model), assuming a general probability of being affected of Muscle mutant level from all affected individuals (n=195) and unaffected carriers (n=19) from the pedigrees with a familial mtDNA mutation were pooled. (Reproduced by permission of Oxford University Press from Hellebrekers et al., 2012). Reproductive BioMedicine Online , DOI: ( /j.rbmo ) Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions
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Figure 3 Nuclear genome transfer in mtDNA disease. (A) Chromosome–spindle transfer: the chromosome–spindle complex is removed from the oocyte of a carrier with mutated (red) mitochondria and fused to an oocyte with healthy (green) mitochondria from which the chromosome–spindle complex is removed; the reconstructed oocyte is then fertilized. (B) Pronuclear transfer: after fertilization, the pronuclei (dark blue) are removed from a zygote with mutated (red) mitochondria and fused to a zygote with healthy (green) mitochondria from which the pronuclei have been removed (light blue). Reproductive BioMedicine Online , DOI: ( /j.rbmo ) Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions
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