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Review
.2022 Feb 24;11(5):797.
doi: 10.3390/cells11050797.

The Role of Mitochondria in Human Fertility and Early Embryo Development: What Can We Learn for Clinical Application of Assessing and Improving Mitochondrial DNA?

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Review

The Role of Mitochondria in Human Fertility and Early Embryo Development: What Can We Learn for Clinical Application of Assessing and Improving Mitochondrial DNA?

Amira Podolak et al. Cells..

Abstract

Mitochondria are well known as 'the powerhouses of the cell'. Indeed, their major role is cellular energy production driven by both mitochondrial and nuclear DNA. Such a feature makes these organelles essential for successful fertilisation and proper embryo implantation and development. Generally, mitochondrial DNA is exclusively maternally inherited; oocyte's mitochondrial DNA level is crucial to provide sufficient ATP content for the developing embryo until the blastocyst stage of development. Additionally, human fertility and early embryogenesis may be affected by either point mutations or deletions in mitochondrial DNA. It was suggested that their accumulation may be associated with ovarian ageing. If so, is mitochondrial dysfunction the cause or consequence of ovarian ageing? Moreover, such an obvious relationship of mitochondria and mitochondrial genome with human fertility and early embryo development gives the field of mitochondrial research a great potential to be of use in clinical application. However, even now, the area of assessing and improving DNA quantity and function in reproductive medicine drives many questions and uncertainties. This review summarises the role of mitochondria and mitochondrial DNA in human reproduction and gives an insight into the utility of their clinical use.

Keywords: autologous mitochondrial transfer; embryo; embryogenesis; fertility; mitochondria; mitochondrial DNA (mtDNA); mitochondrial replacement therapy (MRT); mitochondrial score; oocyte; oogenesis.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Differentiation of homoplasmic and heteroplasmic PGCs into mature oocytes with mtDNA copy number expansion. Mature oocytes derived from heteroplasmic PGC may present varying levels of mutation frequency leading to unaffected or mildly or severely affected offspring. Paternal leakage was not taken into consideration.
Figure 2
Figure 2
Comparison of two mitochondrial replacement technologies—maternal spindle transfer and pronuclear transfer.
See this image and copyright information in PMC

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