Abstract
Mitochondrial DNA (mtDNA) is maternally inherited with fertilized oocytes containing more than 200,000 copies. If none of the copies of mtDNA have a mutation, the mutation load of the oocyte is 0%. Whereas if all the copies of mtDNA have a particular mutation, this is known as homoplasy and the mutation load of the oocyte is 100%, if the mutation is present in only some of the copies of mtDNA, this is known as heteroplasmy and the mutation load is the ratio of mutated to wild-type mtDNA. Pathogenic mtDNA mutations above a certain threshold of mutation load can cause a range of mitochondrial diseases. The severity of disease is determined by the mutation load with high risk of severe and life-threatening diseases with high mutation loads. The transmission of mtDNA disease is unpredictable because women with a heteroplasmic mtDNA mutation can produce oocytes with varying mtDNA mutation loads.
Assisted reproductive technologies have been developed to prevent transmission of mitochondrial DNA disease. PGD is suitable for women that produce embryos with low mutation loads, whereas mitochondrial donation techniques have been developed for women that consistently produce embryos with higher mutation loads. This chapter focuses on these newly developed techniques and current regulation.
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Review Questions
Review Questions
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1.
What are the current reproductive options for women with mtDNA disease?
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2.
Why is pronuclear transfer performed shortly after appearance of the pronuclei?
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Is it recommended that the patient or donor oocytes can be frozen prior to performing the mitochondrial donation techniques? What are the advantages?
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What KPIs should be assessed to determine the competence of an embryologist training in MST and PNT?
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Hyslop, L. (2019). Assisted Reproductive Technologies to Prevent Transmission of Mitochondrial DNA Disease. In: Nagy, Z., Varghese, A., Agarwal, A. (eds) In Vitro Fertilization. Springer, Cham. https://doi.org/10.1007/978-3-319-43011-9_72
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DOI: https://doi.org/10.1007/978-3-319-43011-9_72
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