Transmission of mitochondrial DNA diseases and ways to prevent them

J Poulton, MR Chiaratti, FV Meirelles, S Kennedy… - PLoS …, 2010 - journals.plos.org
Recent reports of strong selection of mitochondrial DNA (mtDNA) during transmission in
animal models of mtDNA disease, and of nuclear transfer in both animal models and …

Mitochondria and reproduction: possibilities for testing and treatment.

SG Kristensen, P Humaidan, K Coetzee - Panminerva medica, 2018 - europepmc.org
Mitochondria, known as the energy factories in all cells, are key regulators of multiple vital
cellular processes and affect all aspects of mammalian reproduction, being essential for …

Mutation-free baby born from a mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome carrier after blastocyst trophectoderm preimplantation genetic …

B Heindryckx, J Neupane, M Vandewoestyne… - Mitochondrion, 2014 - Elsevier
To investigate the applicability of preimplantation genetic diagnosis (PGD), we used
trophectoderm (TE) biopsy to determine the mutation load in a 35-year-old female with …

De novo mtDNA point mutations are common and have a low recurrence risk

SCEH Sallevelt, CEM de Die-Smulders… - Journal of medical …, 2017 - jmg.bmj.com
Background Severe, disease-causing germline mitochondrial (mt) DNA mutations are
maternally inherited or arise de novo. Strategies to prevent transmission are generally …

Towards reliable prenatal diagnosis of mtDNA point mutations: studies of nt8993 mutations in oocytes, fetal tissues, children and adults

HHM Dahl, DR Thorburn, SL White - Human reproduction, 2000 - academic.oup.com
Prenatal diagnosis of mitochondrial DNA (mtDNA) mutations is technically possible, but has
only rarely been attempted. This is largely because of uncertainty about the effects of mtDNA …

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases

K Chatzovoulou, A Mayeur, N Cagnard… - Human …, 2023 - academic.oup.com
STUDY QUESTION Does mitochondrial deficiency affect human embryonic preimplantation
development? SUMMARY ANSWER The presence of a pathogenic mitochondrial variant …

Clinical implications of mitochondrial DNA quantification on pregnancy outcomes: a blinded prospective non-selection study

E Fragouli, C McCaffrey, K Ravichandran… - Human …, 2017 - academic.oup.com
STUDY QUESTION Can quantification of mitochondrial DNA (mtDNA) in trophectoderm (TE)
biopsy samples provide information concerning the viability of a blastocyst, potentially …

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 …

[HTML][HTML] Mitochondrial DNA heteroplasmy after human ooplasmic transplantation

CA Brenner, JA Barritt, S Willadsen, J Cohen - Fertility and Sterility, 2000 - Elsevier
Objective: To determine the patterns of mitochondrial inheritance in embryos, fetuses, and
infants after ooplasmic transplantation using the technique of mitochondrial DNA (mtDNA) …

Clinical and ethical implications of mitochondrial gene transfer

S Mitalipov, DP Wolf - Trends in Endocrinology & Metabolism, 2014 - cell.com
Inherited diseases caused by mitochondrial gene (mtDNA) mutations affect at least 1 in
5000–10000 children and are associated with severe clinical symptoms. Novel reproductive …