标题：Polar body genome transfer for preventing the transmission of inherited mitochondrial diseases

中文标题：预防遗传性线粒体疾病传播的极体基因组转移

引用信息：Wang T, Sha H, Ji D, Zhang HL, Chen D, Cao Y, Zhu J. Polar body genome transfer for preventing the transmission of inherited mitochondrial diseases. Cell. 2014 Jun 19;157(7):1591-604. doi: 10.1016/j.cell.2014.04.042. PMID: 24949971.

摘要：Inherited mtDNA diseases transmit maternally and cause severe phenotypes. Currently, there is no effective therapy or genetic screens for these diseases; however, nuclear genome transfer between patients' and healthy eggs to replace mutant mtDNAs holds promises. Considering that a polar body contains few mitochondria and shares the same genomic material as an oocyte, we perform polar body transfer to prevent the transmission of mtDNA variants. We compare the effects of different types of germline genome transfer, including spindle-chromosome transfer, pronuclear transfer, and first and second polar body transfer, in mice. Reconstructed embryos support normal fertilization and produce live offspring. Importantly, genetic analysis confirms that the F1 generation from polar body transfer possesses minimal donor mtDNA carryover compared to the F1 generation from other procedures. Moreover, the mtDNA genotype remains stable in F2 progeny after polar body transfer. Our preclinical model demonstrates polar body transfer has great potential to prevent inherited mtDNA diseases.

中文摘要：遗传性线粒体 DNA 疾病通过母体传播并导致严重的表型。目前，对于这些疾病还没有有效的治疗方法或者基因筛选; 然而，在患者和健康卵子之间进行核基因组转移以取代突变的线粒体 DNA 是有希望的。考虑到极体包含的线粒体较少，并且与卵母细胞共享相同的基因组物质，我们进行极体转移以防止线粒体 DNA 变体的传播。我们比较了不同类型的生殖细胞基因组转移的效果，包括纺锤体-染色体转移，原核转移，以及第一和第二极体转移。重建的胚胎支持正常受精和产生活的后代。重要的是，遗传分析证实，与其他方法的 F1代相比，极体移植的 F1代具有最小的供体线粒体 DNA 携带。此外，在极体转移后的 F2代中，线粒体 DNA 基因型保持稳定。我们的临床前模型表明极体移植在预防遗传性线粒体 DNA 疾病方面具有巨大的潜力。

原文链接：

https://linkinghub.elsevier.com/retrieve/pii/S0092-8674(14)00661-8