scholarly journals Easing US restrictions on mitochondrial replacement therapy would protect research interests but grease the slippery slope

2019 ◽  
Vol 36 (9) ◽  
pp. 1781-1785
Author(s):  
David L. Keefe
Keyword(s):  
Replacement Therapy ◽  
Slippery Slope ◽  
Mitochondrial Replacement Therapy

scholarly journals Development of mitochondrial replacement therapy: A review

Heliyon ◽  
2020 ◽  
Vol 6 (9) ◽  
pp. e04643
Author(s):  
Hitika Sharma ◽  
Drishtant Singh ◽  
Ankush Mahant ◽  
Satwinder Kaur Sohal ◽  
Anup Kumar Kesavan ◽  
...  
Keyword(s):  
Replacement Therapy ◽  
Mitochondrial Replacement Therapy

scholarly journals Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children

2016 ◽  
Vol 44 (4) ◽  
pp. 1091-1100 ◽  
Author(s):  
Alan Diot ◽  
Eszter Dombi ◽  
Tiffany Lodge ◽  
Chunyan Liao ◽  
Karl Morten ◽  
...  
Keyword(s):  
Replacement Therapy ◽  
Disease Transmission ◽  
Stochastic Dynamics ◽  
Genetic Diagnosis ◽  
Healthy Children ◽  
Non Invasive ◽  
Incurable Disease ◽  
Mitochondrial Replacement Therapy ◽  
Quality Control Mechanism ◽  
Cellular Components

One in 400 people has a maternally inherited mutation in mtDNA potentially causing incurable disease. In so-called heteroplasmic disease, mutant and normal mtDNA co-exist in the cells of carrier women. Disease severity depends on the proportion of inherited abnormal mtDNA molecules. Families who have had a child die of severe, maternally inherited mtDNA disease need reliable information on the risk of recurrence in future pregnancies. However, prenatal diagnosis and even estimates of risk are fraught with uncertainty because of the complex and stochastic dynamics of heteroplasmy. These complications include an mtDNA bottleneck, whereby hard-to-predict fluctuations in the proportions of mutant and normal mtDNA may arise between generations. In ‘mitochondrial replacement therapy’ (MRT), damaged mitochondria are replaced with healthy ones in early human development, using nuclear transfer. We are developing non-invasive alternatives, notably activating autophagy, a cellular quality control mechanism, in which damaged cellular components are engulfed by autophagosomes. This approach could be used in combination with MRT or with the regular management, pre-implantation genetic diagnosis (PGD). Mathematical theory, supported by recent experiments, suggests that this strategy may be fruitful in controlling heteroplasmy. Using mice that are transgenic for fluorescent LC3 (the hallmark of autophagy) we quantified autophagosomes in cleavage stage embryos. We confirmed that the autophagosome count peaks in four-cell embryos and this correlates with a drop in the mtDNA content of the whole embryo. This suggests removal by mitophagy (mitochondria-specific autophagy). We suggest that modulating heteroplasmy by activating mitophagy may be a useful complement to mitochondrial replacement therapy.

scholarly journals Mitochondrial replacement therapy and parenthood

2015 ◽  
Vol 26 (3-4) ◽  
pp. 198-205 ◽  
Author(s):  
Mirko Daniel Garasic ◽  
Daniel Sperling
Keyword(s):  
Replacement Therapy ◽  
Mitochondrial Replacement Therapy

scholarly journals Controversies concerning mitochondrial replacement therapy

2015 ◽  
Vol 103 (2) ◽  
pp. 344-346 ◽  
Author(s):  
Robert Klitzman ◽  
Mark Toynbee ◽  
Mark V. Sauer
Keyword(s):  
Replacement Therapy ◽  
Mitochondrial Replacement Therapy

Three’s a Crowd

2016 ◽  
Vol 41 (8) ◽  
pp. 2-4
Author(s):  
Jo Markette ◽  
Keyword(s):  
Replacement Therapy ◽  
Mitochondrial Disease ◽  
Strong Evidence ◽  
Germ Line ◽  
Human Life ◽  
Married Couple ◽  
High Stakes ◽  
Ethical Concerns ◽  
Mitochondrial Replacement Therapy ◽  
The Gift

Undoubtedly, the deep pain associated with mitochondrial disease tempts suffering families to grasp at any scientific solution that promises hope. Yet the high stakes do not justify mitochondrial replacement. While biotechnology allows scientists to reconstruct embryos, the serious ethical concerns surrounding this procedure negate its liceity. The gift of human life and its inestimable and irreplaceable value are reduced to a person’s utility as components of a manufactured product. Additionally, the sexual union between a married couple is denied its nature of exclusivity. Finally, those most vulnerable face possible exploitation and experimentation: poverty-stricken women who seek recompense for their sex genes, and preborn children who face the unknown ramifications of germ-line alteration. While compassion drives us to find a remedy for mitochondrial disease, strong evidence suggests that mitochondrial replacement therapy fails to meet this need.

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