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三亲婴儿:线粒体替换疗法。

Three-parent babies: Mitochondrial replacement therapies.

机构信息

Faculdade de Ciências Humanas, Universidade FUMEC, Belo Horizonte, MG, Brazil.

出版信息

JBRA Assist Reprod. 2020 May 1;24(2):189-196. doi: 10.5935/1518-0557.20190086.

Abstract

The mitochondria are intracellular organelles, and just like the cell nucleus they have their own genome. They are extremely important for normal body functioning and are responsible for ATP production - the main energy source for the cell. Mitochondrial diseases are associated with mutations in mitochondrial DNA and are inherited exclusively from the mother. They can affect organs that depend on energy metabolism, such as skeletal muscles, the cardiac system, the central nervous system, the endocrine system, the retina and liver, causing various incurable diseases. Mitochondrial replacement techniques provide women with mitochondrial defects a chance to have normal biological children. The goal of such treatment is to reconstruct functional oocytes and zygotes, in order to avoid the inheritance of mutated genes; for this the nuclear genome is withdrawn from an oocyte or zygotes, which carries mitochondrial mutations, and is implanted in a normal anucleated cell donor. Currently, the options of a couple to prevent the transmission of mitochondrial diseases are limited, and mitochondrial donation techniques provide women with mitochondrial defects a chance to have normal children. The nuclear genome can be transferred from oocytes or zygotes using techniques such as pronuclear transfer, spindle transfer, polar body transfer and germinal vesicle transfer. This study presents a review of developed mitochondrial substitution techniques, and its ability to prevent hereditary diseases.

摘要

线粒体是细胞内的细胞器,就像细胞核一样,它们拥有自己的基因组。它们对于正常的身体功能非常重要,负责产生 ATP——细胞的主要能量来源。线粒体疾病与线粒体 DNA 的突变有关,并且仅从母亲遗传。它们可能影响依赖能量代谢的器官,如骨骼肌、心脏系统、中枢神经系统、内分泌系统、视网膜和肝脏,导致各种无法治愈的疾病。线粒体替换技术为有线粒体缺陷的女性提供了拥有正常生物学孩子的机会。这种治疗的目的是重建有功能的卵母细胞和受精卵,以避免突变基因的遗传;为此,从携带线粒体突变的卵母细胞或受精卵中提取核基因组,并植入正常的无核供体细胞中。目前,夫妇预防线粒体疾病传播的选择有限,而线粒体捐赠技术为有线粒体缺陷的女性提供了生育正常孩子的机会。核基因组可以通过原核转移、纺锤体转移、极体转移和生发泡转移等技术从卵母细胞或受精卵中转移。本研究综述了已开发的线粒体替代技术及其预防遗传性疾病的能力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e38/7169912/8ba4b1d85f38/jbra-24-02-0189-g01.jpg

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