Mitochondrial DNA variations in ova and blastocyst: Implications in assisted reproduction |
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| Authors: | Monis Bilal Shamsi Periyasamy Govindaraj Latika Chawla Neena Malhotra Neeta Singh Suneeta Mittal Pankaj Talwar Kumarasamy Thangaraj Rima Dada |
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| Institution: | 1. Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Science, New Delhi, India;2. CSIR — Centre for Cellular and Molecular Biology, Hyderabad, India;3. Department of Obstetrics and Gynaecology, All India Institute of Medical Science, New Delhi, India;4. ART centre, Army Research and Referral Hospital, New Delhi, India |
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| Abstract: | Mitochondrial DNA (mtDNA) of oocyte is critical for its function, embryo quality and development. Analysis of complete mtDNA of 49 oocytes and 18 blastocysts from 67 females opting for IVF revealed 437 nucleotide variations. 40.29% samples had either disease associated or non-synonymous novel or pathogenic mutation in evolutionarily conserved regions. Samples with disease associated mtDNA mutations had low fertilization rate and poor embryo quality, however no difference in implantation or clinical pregnancy rate was observed. Screening mtDNA from oocyte/blastocyst is a simple, clinically reliable method for diagnostic evaluation of female infertility and may reduce risk of mtDNA disease transmission. |
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