Mitochondrial DNA deletion in human oocytes and embryos.
Mitochondrial DNA (mtDNA) deletions are present in both human oocytes and embryos. It has been found that these tissues contain a mtDNA mutation which is present in high amounts in patients with Kearns-Sayre syndrome (KSS) and progressive external ophthalmoplegia. In the present study, the frequency of this KSS deletion was investigated in human oocytes and embryos. Using a nested primer polymerase chain chian reaction (PCR) strategy, the frequency of the KSS deletion in 74 human oocytes and 137 embryos was found to be 32.8 and 8.0% respectively. Using a 'long PCR-short PCR' nested primer strategy, the frequency of the KSS deletion in 181 human oocytes and 104 embryos was found to be 47.0 and 20.2% respectively. There was no statistical correlation between the age of the patients at the time of oocyte retrieval and the presence of the deleted molecules. There was a statistical difference between the presence of the deleted molecules in oocytes versus embryos using either technique (P < 0.0001). The relevance of these findings to the accumulation of low levels of deleted mtDNA in both oocytes and embryos is discussed in this study.
The Institute for Reproductive Medicine and Science of Saint Barnabas Medical Center, Gamete and Embryo Laboratory, Livingston, New Jersey, USA.
C A
CA
Brenner
Y M
YM
Wolny
J A
JA
Barritt
D W
DW
Matt
S
S
Munné
J
J
Cohen
D000328:Adult; D000375:Aging / Q000235:genetics; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D004622:Embryo, Mammalian / Q000378:metabolism*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D008423:Maternal Age; D009865:Oocytes / Q000378:metabolism*; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D012099:Reproductive Techniques; D017384:Sequence Deletion
D017931:DNA Primers; D004272:DNA, Mitochondrial