Molecular Human Reproduction, Vol. 7, No. 1, 103-111,
January 2001
© 2001 European Society of Human Reproduction and Embryology
Reproductive genetics |
Men with oligoasthenoteratozoospermia harbour higher numbers of multiple mitochondrial DNA deletions in their spermatozoa, but individual deletions are not indicative of overall aetiology
1 Assisted Conception Unit, Birmingham Women's Hospital, Birmingham B15 2TG, 2 Reproductive Biology & Genetics Research Group, Department of Medicine, University of Birmingham, Birmingham B15 2TH and 3 Department of Obstetrics and Gynaecology, University of Sheffield, Sheffield, S3 7RE, UK
Abstract
It is believed that one cause of sperm dysfunction might arise through multiple mitochondrial DNA deletions (
mtDNA) resulting in the formation of an incomplete electron transport chain. This study investigates the incidence of multiple mtDNA in human spermatozoa prepared on Percoll gradients. Firstly, we investigated for the presence of two frequently analysed mtDNA, the 4977 and 7.4 kb deletions, using conventional polymerase chain reaction (PCR). These two deletions are characteristically flanked by direct repeats. We further analysed the incidence of one other deletion, the 15 bp deletion in the cytochrome c oxidase subunit III (COX III) of complex IV to determine whether other deletions flanked by direct repeats could be equally predictive. The incidence of these three deletions was not clearly associated with the diagnostic categorization of male infertility. However, the use of long PCR showed that samples harbouring high numbers of mtDNA were associated with the diagnostic categorization of male infertility. We propose that these deletions could arise through a free radical-driven event occurring at the spermatogonial cell stage resulting in the replication of mtDNA molecules at the expense of wild-type molecules. These anomalies in ejaculated sperm mtDNA could account for reproductive failure in some men.
electron transfer chain/long PCR/mitochondrial DNA deletions/reactive oxygen species/spermatozoa
Notes
4 To whom correspondence should be addressed. E-mail: j.stjohn{at}bham.ac.uk
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  J. Ramalho-Santos, S. Varum, S. Amaral, P. C. Mota, A. P. Sousa, and A. Amaral Mitochondrial functionality in reproduction: from gonads and gametes to embryos and embryonic stem cells Hum. Reprod. Update, September 1, 2009; 15(5): 553 - 572. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. E. Marchesi and H. L. Feng Sperm DNA Integrity From Sperm to Egg J Androl, July 1, 2007; 28(4): 481 - 489. [Full Text] [PDF]
|
|
|
|
 |
|
 A. Amaral, J. Ramalho-Santos, and J. C. St John The expression of polymerase gamma and mitochondrial transcription factor A and the regulation of mitochondrial DNA content in mature human sperm Hum. Reprod., June 1, 2007; 22(6): 1585 - 1596. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E.C. Spikings, J. Alderson, and J.C.St. John Transmission of mitochondrial DNA following assisted reproduction and nuclear transfer Hum. Reprod. Update, July 1, 2006; 12(4): 401 - 415. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L.J.A.M. Jacobs, G. de Wert, J.P.M. Geraedts, I.F.M. de Coo, and H.J.M. Smeets The transmission of OXPHOS disease and methods to prevent this Hum. Reprod. Update, March 1, 2006; 12(2): 119 - 136. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Gianotten, M.P. Lombardi, A.H. Zwinderman, R. J. Lilford, and F. van der Veen Idiopathic impaired spermatogenesis: genetic epidemiology is unlikely to provide a short-cut to better understanding Hum. Reprod. Update, November 1, 2004; 10(6): 533 - 539. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Krausz, E. Guarducci, L. Becherini, S. degl'Innocenti, L. Gerace, G. Balercia, and G. Forti The Clinical Significance of the POLG Gene Polymorphism in Male Infertility J. Clin. Endocrinol. Metab., September 1, 2004; 89(9): 4292 - 4297. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. C. St. John and G. Schatten Paternal Mitochondrial DNA Transmission During Nonhuman Primate Nuclear Transfer Genetics, June 1, 2004; 167(2): 897 - 905. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Jensen, H. Leffers, J. H. Petersen, A. Nyboe Andersen, N. Jorgensen, E. Carlsen, T. K. Jensen, N. E. Skakkebaek, and E. Rajpert-De Meyts Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility Hum. Reprod., January 1, 2004; 19(1): 65 - 70. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. May-Panloup, M-F. Chretien, F. Savagner, C. Vasseur, M. Jean, Y. Malthiery, and P. Reynier Increased sperm mitochondrial DNA content in male infertility Hum. Reprod., March 1, 2003; 18(3): 550 - 556. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Diez-Sanchez, E. Ruiz-Pesini, A. C. Lapena, J. Montoya, A. Perez-Martos, J. A. Enriquez, and M. J. Lopez-Perez Mitochondrial DNA Content of Human Spermatozoa Biol Reprod, January 1, 2003; 68(1): 180 - 185. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. O'Connell, N. McClure, and S.E.M. Lewis Mitochondrial DNA deletions and nuclear DNA fragmentation in testicular and epididymal human sperm Hum. Reprod., June 1, 2002; 17(6): 1565 - 1570. [Abstract] [Full Text] [PDF]
|
|