Towards germline gene therapy of inherited mitochondrial diseases

被引：290

作者：

Tachibana, Masahito ^{[1
]}

Amato, Paula ^{[2
]}

Sparman, Michelle ^{[1
]}

Woodward, Joy ^{[1
]}

Sanchis, Dario Melguizo ^{[1
]}

Ma, Hong ^{[1
]}

Gutierrez, Nuria Marti ^{[1
]}

Tippner-Hedges, Rebecca ^{[1
]}

Kang, Eunju ^{[1
]}

Lee, Hyo-Sang ^{[1
]}

Ramsey, Cathy ^{[1
]}

Masterson, Keith ^{[2
]}

Battaglia, David ^{[2
]}

Lee, David ^{[2
]}

Wu, Diana ^{[2
]}

Jensen, Jeffrey ^{[1
,3
]}

Patton, Phillip ^{[2
]}

Gokhale, Sumita ^{[4
,5
]}

Stouffer, Richard ^{[1
,2
]}

Mitalipov, Shoukhrat ^{[1
,2
]}

机构：

[1] Oregon Hlth & Sci Univ, Div Reprod & Dev Sci, Oregon Natl Primate Res Ctr, Beaverton, OR 97006 USA

[2] Oregon Hlth & Sci Univ, Div Reprod Endocrinol, Dept Obstet & Gynecol, Portland, OR 97239 USA

[3] Oregon Hlth & Sci Univ, Ctr Womens Hlth, Portland, OR 97239 USA

[4] Boston Univ, Sch Med, Univ Pathologists LLC, Providence, RI 02908 USA

[5] Roger Williams Med Ctr, Providence, RI 02908 USA

来源：

NATURE | 2013年 / 493卷 / 7434期

基金：

美国国家卫生研究院;

关键词：

OOCYTE VITRIFICATION; ACTIVATION; COMMON;

D O I：

10.1038/nature11647

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Mutations in mitochondrial DNA (mtDNA) are associated with severe human diseases and are maternally inherited through the egg's cytoplasm. Here we investigated the feasibility of mtDNA replacement in human oocytes by spindle transfer (ST; also called spindle-chromosomal complex transfer). Of 106 human oocytes donated for research, 65 were subjected to reciprocal ST and 33 served as controls. Fertilization rate in ST oocytes (73%) was similar to controls (75%); however, a significant portion of ST zygotes (52%) showed abnormal fertilization as determined by an irregular number of pronuclei. Among normally fertilized ST zygotes, blastocyst development (62%) and embryonic stem cell isolation (38%) rates were comparable to controls. All embryonic stem cell lines derived from ST zygotes had normal euploid karyotypes and contained exclusively donor mtDNA. The mtDNA can be efficiently replaced in human oocytes. Although some ST oocytes displayed abnormal fertilization, remaining embryos were capable of developing to blastocysts and producing embryonic stem cells similar to controls.

引用

页码：627 / 631

页数：5

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