[HTML][HTML] Pathogenic mitochondrial DNA 3243A> G mutation: from genetics to phenotype

D Li, C Liang, T Zhang, JL Marley, W Zou, M Lian… - Frontiers in …, 2022 - frontiersin.org
The mitochondrial DNA (mtDNA) m. 3243A> G mutation is one of the most common
pathogenic mtDNA variants, showing complex genetics, pathogenic molecular mechanisms …

Novel reproductive technologies to prevent mitochondrial disease

L Craven, MX Tang, GS Gorman… - Human reproduction …, 2017 - academic.oup.com
BACKGROUND The use of nuclear transfer (NT) has been proposed as a novel
reproductive treatment to overcome the transmission of maternally-inherited mitochondrial …

Concise reviews: assisted reproductive technologies to prevent transmission of mitochondrial DNA disease

J Richardson, L Irving, LA Hyslop, M Choudhary… - Stem …, 2015 - academic.oup.com
While the fertilized egg inherits its nuclear DNA from both parents, the mitochondrial DNA is
strictly maternally inherited. Cells contain multiple copies of mtDNA, each of which encodes …

Maternal spindle transfer overcomes embryo developmental arrest caused by ooplasmic defects in mice

N Costa-Borges, K Spath, I Miguel-Escalada, E Mestres… - Elife, 2020 - elifesciences.org
The developmental potential of early embryos is mainly dictated by the quality of the oocyte.
Here, we explore the utility of the maternal spindle transfer (MST) technique as a …

Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI

M Tang, A Boel, N Castelluccio… - Journal of Assisted …, 2022 - Springer
Purpose Providing additional insights on the efficacy of human nuclear transfer (NT). Here,
and earlier, NT has been applied to minimize transmission risk of mitochondrial DNA …

Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants

M Tang, RR Guggilla, Y Gansemans… - Molecular Human …, 2019 - academic.oup.com
Prevention of mitochondrial DNA (mtDNA) diseases may currently be possible using
germline nuclear transfer (NT). However, scientific evidence to compare efficiency of …

[HTML][HTML] Obstetric and neonatal outcomes in blastocyst-stage biopsy with frozen embryo transfer and cleavage-stage biopsy with fresh embryo transfer after …

S Jing, K Luo, H He, C Lu, S Zhang, Y Tan, F Gong… - Fertility and …, 2016 - Elsevier
Objective To study whether embryo biopsy for preimplantation genetic diagnosis/
preimplantation genetic screening (PGD/PGS) can influence pregnancy complications and …

Assessment of nuclear transfer techniques to prevent the transmission of heritable mitochondrial disorders without compromising embryonic development competence …

J Neupane, M Vandewoestyne, S Ghimire, Y Lu… - Mitochondrion, 2014 - Elsevier
To evaluate and compare mitochondrial DNA (mtDNA) carry-over and embryonic
development potential between different nuclear transfer techniques we performed germinal …

Reproductive options in mitochondrial disease

HJM Smeets, SCEH Sallevelt, M Herbert - Handbook of Clinical Neurology, 2023 - Elsevier
Mitochondrial diseases require customized approaches for reproductive counseling,
addressing differences in recurrence risks and reproductive options. The majority of …

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

J Steffann, S Monnot, JP Bonnefont - Clinical Genetics, 2015 - Wiley Online Library
Mitochondria are the largest generator of ATP in the cell. It is therefore expected that energy‐
requiring processes such as oocyte maturation, early embryonic or fetal development, would …