Transmission of mitochondrial DNA diseases and ways to prevent them
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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) …
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 …
5000–10000 children and are associated with severe clinical symptoms. Novel reproductive …