Cell Biol Int 2018 Jun 1;42(6):711-724. Epub 2018 Mar 1.
Departamento de Genética e Evolução, Universidade Federal de São Carlos, São Carlos, SP, 13565-905, Brazil.
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Biol Direct 2015 May 16;10:22. Epub 2015 May 16.
Dipartimento di Scienze Biologiche, Geologiche ed Ambientali, Università di Bologna, Via Selmi 3, 40126, Bologna, Italy.
Background: The retention of a genome in mitochondria (mtDNA) has several consequences, among which the problem of ensuring a faithful transmission of its genetic information through generations despite the accumulation of oxidative damage by reactive oxygen species (ROS) predicted by the free radical theory of ageing. A division of labour between male and female germ line mitochondria was proposed: since mtDNA is maternally inherited, female gametes would prevent damages by repressing oxidative phosphorylation, thus being quiescent genetic templates. We assessed mitochondrial activity in gametes of an unusual biological system (doubly uniparental inheritance of mitochondria, DUI), in which also sperm mtDNA is transmitted to the progeny, thus having to overcome the problem of maintaining genetic information viability while producing ATP for swimming. Read More
Hum Reprod Update 2015 Sep-Oct;21(5):671-89. Epub 2015 May 14.
Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, PO box 616 (box 16), 6200 MD Maastricht, The Netherlands School for Oncology and Developmental Biology (GROW), Maastricht University Medical Centre, Maastricht, The Netherlands
Background: The endosymbiosis of an alpha-proteobacterium and a eubacterium a billion years ago paved the way for multicellularity and enabled eukaryotes to flourish. The selective advantage for the host was the acquired ability to generate large amounts of intracellular hydrogen-dependent adenosine triphosphate. The price was increased reactive oxygen species (ROS) inside the eukaryotic cell, causing high mutation rates of the mitochondrial DNA (mtDNA). Read More
Mol Hum Reprod 2016 Apr 20;22(4):261-71. Epub 2016 Jan 20.
Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, University of Auckland, Auckland 1023, New Zealand Fertility Associates, Greenlane, Auckland 1051, New Zealand
Study Hypothesis: Maternal ageing and ovarian stimulation result in the accumulation of mitochondrial DNA (mtDNA) deletions and heteroplasmy in individual oocytes from a novel bovine model for human assisted reproductive technology (ART).
Study Finding: The levels of mtDNA deletions detected in oocytes increased with ovarian ageing. Low levels of mtDNA heteroplasmy were apparent across oocytes and no relationship was identified with respect to ovarian ageing or ovarian stimulation. Read More
Hum Reprod 2016 May 2;31(5):1058-65. Epub 2016 Mar 2.
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Study Question: Among women who carry pathogenic mitochondrial DNA (mtDNA) point mutations and healthy oocyte donors, what are the levels of support for developing oocyte mitochondrial replacement therapy (OMRT) to prevent transmission of mtDNA mutations?
Summary Answer: The majority of mtDNA carriers and oocyte donors support the development of OMRT techniques to prevent transmission of mtDNA diseases.
What Is Known Already: Point mutations of mtDNA cause a variety of maternally inherited human diseases that are frequently disabling and often fatal. Recent developments in (OMRT) as well as pronuclear transfer between embryos offer new potential options to prevent transmission of mtDNA disease. Read More