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.
Brenner
C A
CA
The Institute for Reproductive Medicine and Science of Saint Barnabas Medical Center, Gamete and Embryo Laboratory, Livingston, New Jersey, USA.
Wolny
Y M
YM
Barritt
J A
JA
Matt
D W
DW
Munné
S
S
Cohen
J
J
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