Browsing by Subject "EMBRYOS"

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  • Tšuiko, Olga; Dmitrijeva, Tuuli; Kask, Katrin; Tammur, Pille; Tõnisson, Neeme; Salumets, Andres; Jatsenko, Tatjana (2019)
    Balanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal disorders. At the same time, these individuals are typically healthy with no signs of developmental problems, hence they often are unaware of their condition. Yet, because of difficulties in conceiving, balanced translocation carriers often turn to assisted reproduction, some of whom may also undergo preimplantation genetic testing for aneuploidy (PGT-A) to improve the likelihood of achieving a successful pregnancy.
  • Peyrard-Janvid, Myriam; Leslie, Elizabeth J.; Kousa, Youssef A.; Smith, Tiffany L.; Dunnwald, Martine; Magnusson, Mans; Lentz, Brian A.; Unneberg, Per; Fransson, Ingegerd; Koillinen, Hannele K.; Rautio, Jorma; Pegelow, Marie; Karsten, Agneta; Basel-Vanagaite, Lina; Gordon, William; Andersen, Bogi; Svensson, Thomas; Murray, Jeffrey C.; Cornell, Robert A.; Kere, Juha; Schutte, Brian C. (2014)
  • Sikorskaite, Sidona; Rajamaki, Minna-Liisa; Baniulis, Danas; Stanys, Vidmantas; Valkonen, Jari P. T. (2013)
  • Latorre-Pellicer, Ana; Victoria Lechuga-Vieco, Ana; Johnston, Iain G.; Hämäläinen, Riikka H.; Pellico, Juan; Justo-Mendez, Raquel; Maria Fernandez-Toro, Jose; Claveria, Cristina; Guaras, Adela; Sierra, Rocio; Llop, Jordi; Torres, Miguel; Miguel Criado, Luis; Suomalainen, Anu; Jones, Nick S.; Ruiz-Cabello, Jesus; Antonio Enriquez, Jose (2019)
    mtDNA is present in multiple copies in each cell derived from the expansions of those in the oocyte. Heteroplasmy, more than one mtDNA variant, may be generated by mutagenesis, paternal mtDNA leakage, and novel medical technologies aiming to prevent inheritance of mtDNA-linked diseases. Heteroplasmy phenotypic impact remains poorly understood. Mouse studies led to contradictory models of random drift or haplotype selection for mother-tooffspring transmission of mtDNA heteroplasmy. Here, we show that mtDNA heteroplasmy affects embryo metabolism, cell fitness, and induced pluripotent stem cell (iPSC) generation. Thus, genetic and pharmacological interventions affecting oxidative phosphorylation (OXPHOS) modify competition among mtDNA haplotypes during oocyte development and/or at early embryonic stages. We show that heteroplasmy behavior can fall on a spectrum from random drift to strong selection, depending on mito-nuclear interactions and metabolic factors. Understanding heteroplasmy dynamics and its mechanisms provide novel knowledge of a fundamental biological process and enhance our ability to mitigate risks in clinical applications affecting mtDNA transmission.