Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-cd9895bd7-hc48f Total loading time: 0 Render date: 2024-12-27T04:19:59.260Z Has data issue: false hasContentIssue false

Chapter 12 - Mitochondrial Genetics in Reproductive Medicine

Published online by Cambridge University Press:  15 December 2022

By
Claudia Spits  and
Filippo Zambelli
Edited by
Stéphane Viville  and
Karen D. Sermon
Stéphane Viville
Affiliation:
Laboratoire de Génétique Médicale de Strasbourg and Laboratoire de diagnostic génétique, Strasbourg
Karen D. Sermon
Affiliation:
Reproduction and Genetics Research Group, Vrije Universiteit Brussel
Get access

Summary

Mitochondria are typically described as the powerhouse of the cell, because they are the cytoplasmic organelles responsible for the production of ATP through oxidative phosphorylation. Over the years, it has become clear that their function within the cell is more complex as they are also involved in numerous other processes, including lipid and carbohydrate metabolism, heme biosynthesis, apoptosis, and calcium homeostasis [1]. Human cells contain multiple mitochondria, with the exception of red blood cells that have none. The numbers, mass, morphology, and distribution vary greatly across different cell types, generally depending on the energy demands of the tissues. For instance, sperm contain 20–75 mitochondria in their midpiece, while hepatocytes and muscle cells contain thousands.

Type
Chapter
Information
Textbook of Human Reproductive Genetics , pp. 169 - 184
Publisher: Cambridge University Press
Print publication year: 2023

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Spinelli, JB, Haigis, MC. The multifaceted contributions of mitochondria to cellular metabolism. Nat Cell Biol 2018;20:745–54.CrossRefGoogle ScholarPubMed
Chen, XJ, Butow, RA. The organization and inheritance of the mitochondrial genome. Nat Rev Genet 2005;6:815–25.Google Scholar
Gorman, GS, Chinnery, PF, DiMauro, S, et al. Mitochondrial diseases. Nat Rev Dis Primers 2016;2:16080. DOI 10.1038/nrdp.2016.80. PMID: 27775730Google Scholar
Otten, ABC, Smeets, HJM. Evolutionary defined role of the mitochondrial DNA in fertility, disease and ageing. Hum Reprod Update 2015;21:671–89.CrossRefGoogle ScholarPubMed
Fenton, AR, Jongens, TA, Holzbaur, ELF. Mitochondrial dynamics: shaping and remodeling an organelle network. Curr Opin Cell Biol 2021;68:28–36.Google Scholar
Holt, IJ, Reyes, A. Human mitochondrial DNA replication. Cold Spring Harb Perspect Biol 2012;4(12):a012971.CrossRefGoogle ScholarPubMed
Wallace, DC. Mitochondrial DNA variation in human radiation and disease. Cell 2015;163:33–8.Google Scholar
Hellebrekers, DMEI, Wolfe, R, Hendrickx, ATM, et al. PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. Hum Reprod Update 2012;18:341–9.CrossRefGoogle ScholarPubMed
Luo, S, Valencia, CA, Zhang, J, et al. Biparental inheritance of mitochondrial DNA in humans. Proc Natl Acad Sci USA 2018;115(51):13039–44.CrossRefGoogle ScholarPubMed
St John, J. The control of mtDNA replication during differentiation and development. Biochim Biophys Acta 2014;1840:1345–54.Google ScholarPubMed
Van den Ameele, J, Li, AYZ, Ma, H, Chinnery, PF. Mitochondrial heteroplasmy beyond the oocyte bottleneck. Semin Cell Dev Biol 2020;97:156–66.Google Scholar
Gu, L, Liu, H, Gu, X, et al. Metabolic control of oocyte development: linking maternal nutrition and reproductive outcomes. Cell Mol Life Sci 2015;72:251–71.CrossRefGoogle ScholarPubMed
Ramalho-Santos, J, Varum, S, Amaral, S, et al. Mitochondrial functionality in reproduction: from gonads and gametes to embryos and embryonic stem cells. Hum Reprod Update 2009;15:553–72.CrossRefGoogle ScholarPubMed
Amaral, A, Lourenço, B, Marques, M, Ramalho-Santos, J. Mitochondria functionality and sperm quality. Reproduction 2013;146:163–74.CrossRefGoogle ScholarPubMed
Dumollard, R, Duchen, MR, Carroll, J. The role of mitochondrial function in the oocyte and embryo. Curr Top Dev Biol 2007;77:21–49.CrossRefGoogle ScholarPubMed
Cecchino, GN, Garcia-Velasco, JA. Mitochondrial DNA copy number as a predictor of embryo viability. Fertil Steril 2019;111:205–11.CrossRefGoogle ScholarPubMed
Taugourdeau, A, Desquiret-Dumas, V, Hamel, JF, et al. The mitochondrial DNA content of cumulus cells may help predict embryo implantation. J Assist Reprod Genet 2019;36:223–8.CrossRefGoogle ScholarPubMed
Smeets, HJM, Sallevelt, SCEH, Dreesen, JCFM, de Die-Smulders, CEM, de Coo, IFM. Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis. Ann NY Acad Sci 2015;1350:29–36.Google Scholar
Burgstaller, JP, Johnston, IG, Poulton, J. Mitochondrial DNA disease and developmental implications for reproductive strategies. Mol Hum Reprod 2015;21:11–22.Google Scholar
Sallevelt, SCEH, Dreesen, JCFM, Drüsedau, M, et al. Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success. J Med Genet 2013;50:125–32.CrossRefGoogle ScholarPubMed
Mitalipov, S, Amato, P, Parry, S, Falk, MJ. Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases. Cell Rep 2014;7:935–7.Google Scholar
Craven, L, Alston, CL, Taylor, RW, Turnbull, DM. Recent advances in mitochondrial disease. Annu Rev Genomics Hum Genet 2017;18 :257–75.CrossRefGoogle ScholarPubMed
Latorre-Pellicer, A, Moreno-Loshuertos, R, Lechuga-Vieco, AV, et al. Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing. Nature 2016;535:561–5.CrossRefGoogle ScholarPubMed
Reinhardt, K, Dowling, DK, Morrow, EH. Mitochondrial replacement, evolution, and the clinic. Science 2013;341:1345–6.Google Scholar
Sloan, DB, Fields, PD, Havird, JC. Mitonuclear linkage disequilibrium in human populations. Proc R Soc B Biol Sci 2015;282:20151704.Google Scholar
Gammage, PA, Moraes, CT, Minczuk, M. Mitochondrial genome engineering: the revolution may not be CRISPR-Ized. Trends Genet 2018;34:101–10.CrossRefGoogle Scholar
Mok, BY, de Moraes, MH, Zeng, J, et al. A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing. Nature 2020;583:631–7.Google Scholar
Demain, LAM, Conway, GS, Newman, WG. Genetics of mitochondrial dysfunction and infertility. Clin Genet 2017;91:199–207.CrossRefGoogle ScholarPubMed
Luo, SM, Schatten, H, Sun, QY. Sperm mitochondria in reproduction: good or bad and where do they go? J Genet Genomics 2013;40:549–56.Google Scholar
Spelbrink, JN. Functional organization of mammalian mitochondrial DNA in nucleoids: history , recent developments , and future challenges. IUBMB Life 2010;62:19–32.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×