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Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations

Author

Listed:
  • Eunju Kang

    (Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
    Oregon National Primate Research Center, Oregon Health & Science University
    †Present address: Stem Cell Center, ASAN Institute for Life Sciences, ASAN Medical Center, Olympic-ro 43-gil, Songpa-gu, Seoul 138-736, South Korea.)

  • Jun Wu

    (Gene Expression Laboratory, Salk Institute for Biological Studies)

  • Nuria Marti Gutierrez

    (Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
    Oregon National Primate Research Center, Oregon Health & Science University)

  • Amy Koski

    (Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
    Oregon National Primate Research Center, Oregon Health & Science University)

  • Rebecca Tippner-Hedges

    (Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
    Oregon National Primate Research Center, 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
    Oregon National Primate Research Center, Oregon Health & Science University)

  • Yeonmi Lee

    (Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
    Oregon National Primate Research Center, Oregon Health & Science University
    †Present address: Stem Cell Center, ASAN Institute for Life Sciences, ASAN Medical Center, Olympic-ro 43-gil, Songpa-gu, Seoul 138-736, South Korea.)

  • Tomonari Hayama

    (Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
    Oregon National Primate Research Center, Oregon Health & Science University)

  • Crystal Van Dyken

    (Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
    Oregon National Primate Research Center, 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
    Oregon National Primate Research Center, Oregon Health & Science University)

  • Ying Li

    (Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
    Oregon National Primate Research Center, Oregon Health & Science University)

  • Dongmei Ji

    (Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University
    Reproductive Medical Centre, Anhui Medical 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
    Oregon National Primate Research Center, 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
    Oregon National Primate Research Center, Oregon Health & Science University
    Oregon Health & Science University
    Knight Cardiovascular Institute, Oregon Health & Science University)

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.

Suggested Citation

  • 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 Va, 2016. "Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations," Nature, Nature, vol. 540(7632), pages 270-275, December.
    • Handle: RePEc:nat:nature:v:540:y:2016:i:7632:d:10.1038_nature20592
    DOI: 10.1038/nature20592
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    Cited by:

    1. Ieva Keraite & Philipp Becker & Davide Canevazzi & Cristina Frias-López & Marc Dabad & Raúl Tonda-Hernandez & Ida Paramonov & Matthew John Ingham & Isabelle Brun-Heath & Jordi Leno & Anna Abulí & Elen, 2022. "A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
    2. Robert Gajda & Aleksandra Samełko & Miłosz Czuba & Agnieszka Piotrowska-Nowak & Katarzyna Tońska & Cezary Żekanowski & Anna Klisiewicz & Wojciech Drygas & Anita Gębska-Kuczerowska & Jacek Gajda & Beat, 2021. "To Be a Champion of the 24-h Ultramarathon Race. If Not the Heart ... Mosaic Theory?," IJERPH, MDPI, vol. 18(5), pages 1-24, March.
    3. Liina Nagirnaja & Alexandra M. Lopes & Wu-Lin Charng & Brian Miller & Rytis Stakaitis & Ieva Golubickaite & Alexandra Stendahl & Tianpengcheng Luan & Corinna Friedrich & Eisa Mahyari & Eloise Fadial &, 2022. "Diverse monogenic subforms of human spermatogenic failure," Nature Communications, Nature, vol. 13(1), pages 1-18, December.

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