Evidence map›Paper›PMID 27212703›Full record

ArticleCell stem cell2016

Genetic Drift Can Compromise Mitochondrial Replacement by Nuclear Transfer in Human Oocytes.

Mitsutoshi Yamada, Valentina Emmanuele, Maria J Sanchez-Quintero, Bruce Sun, Gregory Lallos, Daniel Paull, Matthew Zimmer, Shardonay Pagett, Robert W Prosser, Mark V Sauer and 2 more

Open access · bronzeAbstract read
In one paragraph

Article in Cell stem cell, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.

0numbers the graph read from it
0cells of the map it votes in
84citing papers in PubMed
17.4field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

84 citing papers in PubMed, 189 citations in OpenAlex.

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  20. Precision mitochondrial medicine.Cambridge prisms. Precision medicine · 2023
    Review

24 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 3 institutions in 1 country.

Mitsutoshi YamadaThe New York Stem Cell Foundation Research Institute, New York, NY 10032, USA.
Valentina EmmanueleDepartment of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Maria J Sanchez-QuinteroDepartment of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Bruce SunThe New York Stem Cell Foundation Research Institute, New York, NY 10032, USA.
Gregory LallosThe New York Stem Cell Foundation Research Institute, New York, NY 10032, USA.
Daniel PaullThe New York Stem Cell Foundation Research Institute, New York, NY 10032, USA.
Matthew ZimmerThe New York Stem Cell Foundation Research Institute, New York, NY 10032, USA.
Shardonay PagettThe New York Stem Cell Foundation Research Institute, New York, NY 10032, USA.
Robert W ProsserCenter for Women's Reproductive Care, College of Physicians and Surgeons, Columbia University, New York, NY 10019, USA; Department of Obstetrics and Gynecology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Mark V SauerCenter for Women's Reproductive Care, College of Physicians and Surgeons, Columbia University, New York, NY 10019, USA; Department of Obstetrics and Gynecology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Michio HiranoDepartment of Neurology, Columbia University Medical Center, New York, NY 10032, USA. Electronic address: mh29@cumc.columbia.edu.
Dieter EgliThe New York Stem Cell Foundation Research Institute, New York, NY 10032, USA; Naomi Berrie Diabetes Center, Columbia University, Department of Pediatrics, New York, NY 10032, USA. Electronic address: d.egli@nyscf.org.
New York Stem Cell Foundation · USColumbia University Irving Medical Center · USColumbia University · US

Funding

The North American Mitochondrial Disease Consortium (NAMDC)U54NS078059 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HIRANO, MICHIO · 2011 to 2023
$17.5M
Tech-CoreP01HD080642 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI QUINZII, CATARINA M. · 2014 to 2018
$7.8M
NICHD NIH HHS P01 HD080642NINDS NIH HHS U54 NS078059
6 · The paper itself

Abstract

Replacement of mitochondria through nuclear transfer between oocytes of two different women has emerged recently as a strategy for preventing inheritance of mtDNA diseases. Although experiments in human oocytes have shown effective replacement, the consequences of small amounts of mtDNA carryover have not been studied sufficiently. Using human mitochondrial replacement stem cell lines, we show that, even though the low levels of heteroplasmy introduced into human oocytes by mitochondrial carryover during nuclear transfer often vanish, they can sometimes instead result in mtDNA genotypic drift and reversion to the original genotype. Comparison of cells with identical oocyte-derived nuclear DNA but different mtDNA shows that either mtDNA genotype is compatible with the nucleus and that drift is independent of mitochondrial function. Thus, although functional replacement of the mitochondrial genome is possible, even low levels of heteroplasmy can affect the stability of the mtDNA genotype and compromise the efficacy of mitochondrial replacement.

Indexed as

Genetic DriftNuclear Transfer TechniquesCell LineCell NucleusDNA, MitochondrialGenotypeHumansMitochondriaOocytesDNA, Mitochondrial

Identifiers

PMID27212703
PMCPMC9326498
OpenAlexW2407256950

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.