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Chapter 12 - Mitochondrial Genetics in Reproductive Medicine

Published online by Cambridge University Press:  15 December 2022

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
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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.

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Publisher: Cambridge University Press
Print publication year: 2023

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