关键词: DNA, 线粒体；, 线粒体遗传病；, 遗传性疾病, 先天性；, 胚胎植入前遗传学诊断；, 植入前诊断；, 产前诊断；, 线粒体置换；, 纺锤体移植；, 原核移植；, 极体移植；, 线粒体替代疗法

Abstract: Mutations in mitochondrial DNA (mtDNA) that occur in oocytes cause the maternal inherited disorders, known as mitochondrial genetic disease. Mitochondrial genetic diseases usually occur in infants, while most of inherited mtDNA-related diseases affect the function of multiple organs and systems. Therefore, mitochondrial genetic diseases are a series of disabling and fatal diseases that could endanger human health seriously, without effective medical treatment. Those female patients with mitochondrial genetic diseases are not recommended to give birth. Genetic characteristics of mtDNA make the prenatal and pre-pregnancy counseling more difficult for many women with pathogenic mtDNA mutations. The modern reproductive genetic interventions could be considered to reduce the risk of inherited mtDNA-related diseases transmitted to offspring. Preimplantation genetic testing (PGT) and prenatal diagnostic techniques may detect the level of mtDNA mutations, and select normal embryos for transplantation or prevent the birth of offspring with the high levels of mutations. However, these techniques may not be appropriate for all patients. The mitochondrial replacement technique has brought new hope for the prevention of serious inherited mtDNA-related diseases, which is expected to minimize the risk of mtDNA-related diseases in their offspring. The long-term safety and effectiveness should be further studied.

Key words: DNA, mitochondrial；, Mitochondrial genetic diseases；, Genetic diseases, inborn；, Preimplantation genetic testing；Preimplantation diagnosis；, Prenatal diagnosis；, Mitochondrial replacement；, Pronuclear transfer；, Maternal spindle transfer；, Polar body transfer；, Mitochondrial replacement therapy