Mitochondrial DNA variations in ova and blastocyst: implications in assisted reproduction

Monis Bilal Shamsi; Periyasamy Govindaraj; Latika Chawla; Neena Malhotra; Neeta Singh; Suneeta Mittal; Pankaj Talwar; Kumarasamy Thangaraj; Rima Dada

doi:10.1016/j.mito.2013.01.002

Mitochondrial DNA variations in ova and blastocyst: implications in assisted reproduction

Mitochondrion. 2013 Mar;13(2):96-105. doi: 10.1016/j.mito.2013.01.002. Epub 2013 Jan 16.

Authors

Monis Bilal Shamsi¹, Periyasamy Govindaraj, Latika Chawla, Neena Malhotra, Neeta Singh, Suneeta Mittal, Pankaj Talwar, Kumarasamy Thangaraj, Rima Dada

Affiliation

¹ Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Science, New Delhi, India.

PMID: 23333796
DOI: 10.1016/j.mito.2013.01.002

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Blastocyst / physiology*
DNA, Mitochondrial / genetics*
Female
Genetic Variation*
Humans
Ovum / physiology*
Pregnancy

Substances

DNA, Mitochondrial