title: Mitochondrial DNA variations in ova and blastocyst: implications in assisted reproduction.
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.
authors: Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Science, New Delhi, India.
authors: Monis Bilal
authors: MB
authors: Shamsi
authors: Periyasamy
authors: P
authors: Govindaraj
authors: Latika
authors: L
authors: Chawla
authors: Neena
authors: N
authors: Malhotra
authors: Neeta
authors: N
authors: Singh
authors: Suneeta
authors: S
authors: Mittal
authors: Pankaj
authors: P
authors: Talwar
authors: Kumarasamy
authors: K
authors: Thangaraj
authors: Rima
authors: R
authors: Dada
mesh_terms: D000328:Adult; D001755:Blastocyst / Q000502:physiology*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D010063:Ovum / Q000502:physiology*; D011247:Pregnancy
chemical_list: D004272:DNA, Mitochondrial