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Mutations in mitochondrial DNA (mtDNA) are maternally inherited and can cause fatal or debilitating mitochondrial disorders. The severity of clinical symptoms is often associated with the level of mtDNA mutation load or degree of heteroplasmy. Current clinical options to prevent transmission of mtDNA mutations to offspring are limited. Experimental spindle transfer in metaphase II oocytes, also called mitochondrial replacement therapy, is a novel technology for preventing mtDNA transmission from oocytes to pre-implantation embryos. Here, we report a female carrier of Leigh syndrome (mtDNA mutation 8993T > G), with a long history of multiple undiagnosed pregnancy losses and deaths of offspring as a result of this disease, who underwent IVF after reconstitution of her oocytes by spindle transfer into the cytoplasm of enucleated donor oocytes. A male euploid blastocyst wasobtained from the reconstituted oocytes, which had only a 5.7% mtDNA mutation load. Transfer of the embryo resulted in a pregnancy with delivery of a boy with neonatal mtDNA mutation load of 2.36-9.23% in his tested tissues. The boy is currently healthy at 7 months of age, although long-term follow-up of the child's longitudinal development remains crucial.

Original publication

DOI

10.1016/j.rbmo.2017.01.013

Type

Journal article

Journal

Reprod Biomed Online

Publication Date

04/2017

Volume

34

Pages

361 - 368

Keywords

Cytoplasm, Leigh syndrome, Meiotic spindle, Mitochondria, Nuclear transfer, Oocyte, DNA, Mitochondrial, Female, Fertilization in Vitro, Heterozygote, Humans, Leigh Disease, Live Birth, Maternal Inheritance, Mitochondria, Mitochondrial Replacement Therapy, Oocyte Donation, Oocytes, Pedigree, Pregnancy, Preimplantation Diagnosis, Sequence Analysis, DNA