Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations

Eunju Kang, Jun Wu, Nuria Marti Gutierrez, Amy Koski, Rebecca Tippner-Hedges, Karen Agaronyan, Aida Platero-Luengo, Paloma Martinez-Redondo, Hong Ma, Yeonmi Lee, Tomonari Hayama, Crystal Van Dyken, Xinjian Wang, Shiyu Luo, Riffat Ahmed, Ying Li, Dongmei Ji, Refik Kayali, Cengiz Cinnioglu, Susan Olson, Jeffrey Jensen, David Battaglia, David Lee, Diana Wu, Taosheng Huang, Don P. Wolf, Dmitry Temiakov, Juan Carlos Izpisua Belmonte, Paula Amato () and Shoukhrat Mitalipov ()
Additional contact information
Eunju Kang: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Jun Wu: Gene Expression Laboratory, Salk Institute for Biological Studies
Nuria Marti Gutierrez: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Amy Koski: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Rebecca Tippner-Hedges: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Karen Agaronyan: Rowan University
Aida Platero-Luengo: Gene Expression Laboratory, Salk Institute for Biological Studies
Paloma Martinez-Redondo: Gene Expression Laboratory, Salk Institute for Biological Studies
Hong Ma: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Yeonmi Lee: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Tomonari Hayama: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Crystal Van Dyken: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Xinjian Wang: Cincinnati Children’s Hospital Medical Center
Shiyu Luo: Cincinnati Children’s Hospital Medical Center
Riffat Ahmed: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Ying Li: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Dongmei Ji: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Refik Kayali: IviGen Los Angeles
Cengiz Cinnioglu: IviGen Los Angeles
Susan Olson: Research Cytogenetics Laboratory, Oregon Health & Science University
Jeffrey Jensen: Oregon Health & Science University
David Battaglia: Oregon Health & Science University
David Lee: Oregon Health & Science University
Diana Wu: Oregon Health & Science University
Taosheng Huang: Cincinnati Children’s Hospital Medical Center
Don P. Wolf: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
Dmitry Temiakov: Rowan University
Juan Carlos Izpisua Belmonte: Gene Expression Laboratory, Salk Institute for Biological Studies
Paula Amato: Oregon Health & Science University
Shoukhrat Mitalipov: Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University

Nature, 2016, vol. 540, issue 7632, 270-275

Abstract: Analysis of mitochondrial replacement therapy shows, even with efficient mutant mitochondrial DNA replacement and maintenance in embryonic stem cells, a gradual loss of donor mitochondrial DNA in some lines owing to a polymorphism in the D-loop, potentially causing preferential replication of specific mitochondrial DNA haplotypes.

Date: 2016
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DOI: 10.1038/nature20592

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