Ekaterina D. Ivanova, Vera S. Belousova, Oksana V. Skorobogatova, I. Bogomazova, E. Timokhina, Svetlana V. Pesegova
{"title":"线粒体疾病:原因和解决方案(文献综述)","authors":"Ekaterina D. Ivanova, Vera S. Belousova, Oksana V. Skorobogatova, I. Bogomazova, E. Timokhina, Svetlana V. Pesegova","doi":"10.17816/2313-8726-2023-10-4-243-251","DOIUrl":null,"url":null,"abstract":"The discovery of mitochondrial desoxyribonucleic acid (DNA) mutations and the association of these mutations with the development of severe, sometimes, fatal diseases led to new forms of reproductive technologies, i.e., mitochondrial replacement therapy. Currently, researchers are investigating three main methods of mitochondrial replacement therapy: pronuclear transfer, maternal spindle transfer, and polar body genome transfer. Thanks to these methods, the transmission of faulty mitochondrial DNA from the mother to the next generation can be prevented, with the main goal of developing a healthy offspring free of genetic disorders and lethal mitochondrial diseases. However, the implementation of these technologies has raised several moral, social, and cultural concerns, as it marks the emergence of a child with genetic material from three parents for the first time. This review presents an objective summary of the causes of mitochondrial disorders and various techniques employed in mitochondrial replacement therapy, along with their outcomes.","PeriodicalId":448378,"journal":{"name":"V.F.Snegirev Archives of Obstetrics and Gynecology","volume":"114 44","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mitochondrial diseases: causes and solutions (literature review)\",\"authors\":\"Ekaterina D. Ivanova, Vera S. Belousova, Oksana V. Skorobogatova, I. Bogomazova, E. Timokhina, Svetlana V. Pesegova\",\"doi\":\"10.17816/2313-8726-2023-10-4-243-251\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The discovery of mitochondrial desoxyribonucleic acid (DNA) mutations and the association of these mutations with the development of severe, sometimes, fatal diseases led to new forms of reproductive technologies, i.e., mitochondrial replacement therapy. Currently, researchers are investigating three main methods of mitochondrial replacement therapy: pronuclear transfer, maternal spindle transfer, and polar body genome transfer. Thanks to these methods, the transmission of faulty mitochondrial DNA from the mother to the next generation can be prevented, with the main goal of developing a healthy offspring free of genetic disorders and lethal mitochondrial diseases. However, the implementation of these technologies has raised several moral, social, and cultural concerns, as it marks the emergence of a child with genetic material from three parents for the first time. This review presents an objective summary of the causes of mitochondrial disorders and various techniques employed in mitochondrial replacement therapy, along with their outcomes.\",\"PeriodicalId\":448378,\"journal\":{\"name\":\"V.F.Snegirev Archives of Obstetrics and Gynecology\",\"volume\":\"114 44\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-12-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"V.F.Snegirev Archives of Obstetrics and Gynecology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17816/2313-8726-2023-10-4-243-251\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"V.F.Snegirev Archives of Obstetrics and Gynecology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17816/2313-8726-2023-10-4-243-251","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
线粒体脱氧核糖核酸(DNA)突变的发现以及这些突变与严重疾病(有时甚至是致命疾病)的发生相关联,催生了新的生殖技术,即线粒体替代疗法。目前,研究人员正在研究线粒体替代疗法的三种主要方法:前核转移、母体纺锤体转移和极体基因组转移。通过这些方法,可以防止有问题的线粒体 DNA 从母体遗传给下一代,其主要目标是培育出没有遗传疾病和致命线粒体疾病的健康后代。然而,这些技术的实施引起了一些道德、社会和文化方面的担忧,因为这标志着首次出现了一个拥有来自父母三方遗传物质的孩子。本综述客观总结了线粒体疾病的原因、线粒体替代疗法中采用的各种技术及其结果。
Mitochondrial diseases: causes and solutions (literature review)
The discovery of mitochondrial desoxyribonucleic acid (DNA) mutations and the association of these mutations with the development of severe, sometimes, fatal diseases led to new forms of reproductive technologies, i.e., mitochondrial replacement therapy. Currently, researchers are investigating three main methods of mitochondrial replacement therapy: pronuclear transfer, maternal spindle transfer, and polar body genome transfer. Thanks to these methods, the transmission of faulty mitochondrial DNA from the mother to the next generation can be prevented, with the main goal of developing a healthy offspring free of genetic disorders and lethal mitochondrial diseases. However, the implementation of these technologies has raised several moral, social, and cultural concerns, as it marks the emergence of a child with genetic material from three parents for the first time. This review presents an objective summary of the causes of mitochondrial disorders and various techniques employed in mitochondrial replacement therapy, along with their outcomes.