MARGen Clinic, 18006 Granada, Spain.
Int J Mol Sci. 2023 May 18;24(10):8950. doi: 10.3390/ijms24108950.
In human spermatozoa and oocytes (and their surrounding granulosa cells), mitochondria carry out important functions relating to human fertility and infertility. Sperm mitochondria are not transmitted to the future embryo, but are closely related to the generation of energy needed for sperm movement, capacitation, and acrosome reactions, as well as for sperm-oocyte fusion. On the other hand, oocyte mitochondria produce energy required for oocyte meiotic division and their abnormalities can thus cause oocyte and embryo aneuploidy. In addition, they play a role in oocyte calcium metabolism and in essential epigenetic events during the oocyte-to-embryo transition. They are transmitted to the future embryos and may thus cause hereditary diseases in the offspring. Due to the long life span of the female germ cells, the accumulation of mitochondrial DNA abnormalities often causes ovarian aging. Mitochondrial substitution therapy is the only way of dealing with these issues nowadays. New therapies based on mitochondrial DNA editing are under investigation.
在人类精子和卵子（及其周围的颗粒细胞）中，线粒体行使着与人类生育力和不育症相关的重要功能。精子线粒体不会传递给未来的胚胎，但与精子运动、获能和顶体反应所需的能量产生以及精子-卵子融合密切相关。另一方面，卵母细胞线粒体产生卵母细胞减数分裂所需的能量，其异常可导致卵母细胞和胚胎非整倍体。此外，它们在卵母细胞钙代谢和卵母细胞到胚胎过渡期间的重要表观遗传事件中发挥作用。它们传递给未来的胚胎，因此可能导致后代的遗传性疾病。由于女性生殖细胞的寿命较长，线粒体 DNA 异常的积累常常导致卵巢衰老。线粒体替代疗法是目前解决这些问题的唯一方法。基于线粒体 DNA 编辑的新疗法正在研究中。
