This Article Full Text Full Text (PDF) Submit a related Letter to the Editor Purchase Article View Shopping Cart Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Krausz, C. Articles by Forti, G. Search for Related Content PubMed PubMed Citation Articles by Krausz, C. Articles by Forti, G.

The Clinical Significance of the POLG Gene Polymorphism in Male Infertility

Department of Clinical Physiopathology, Andrology Unit (C.K., E.G., L.B., S.d.’I., G.F.), University of Florence, 50139 Firenze, Italy; Molecular Biology Support Laboratory (L.G.), Applied Biosystems, Monza, Italy; and Division of Endocrinology (G.B.), Institute of Internal Medicine Polytechnic University of Marche, Ancona, Italy

Address all correspondence and requests for reprints to: Csilla Krausz, M.D., Ph.D., Andrology Unit, Department of Clinical Physiopathology, Viale Pieraccini 6, 50139 Florence, Italy. E-mail: c.krausz{at}dfc.unifi.it.

Based on association studies, an increasing number of gene polymorphisms have been proposed as modulators of spermatogenesis. Interestingly, a clear cause-effect relationship between a polymorphism of the POLG gene and oligo(astheno)zoospermia was recently described. The POLG gene contains a polymorphic CAG repeat, and the presence of a homozygous mutant (not10/not10 CAG) genotype was found only in infertile men. In the present study, a large number of infertile patients and normospermic men of Italian origin were studied to define the effect of POLG genotypes on spermatogenic potential and whether the homozygous mutant is specific for spermatogenic disturbances. The mutated genotype was found at the same frequency in both infertile and normospermic men. Mean values of sperm parameters such as sperm count, motility, and morphology did not differ significantly between carriers of the three different genotypes. Our study failed to confirm any influence of the POLG gene polymorphism on the efficiency of the spermatogenesis. More importantly, considering that the homozygous mutant genotype has been found in normospermic fertile men, the analysis of the CAG repeat tract of the POLG gene does not appear to have any clinical diagnostic value.

This article has been cited by other articles:

				G.H. Westerveld, L. Kaaij-Visser, M. Tanck, F. van der Veen, and S. Repping CAG repeat length variation in the polymerase gamma (POLG) gene: effect on semen quality Mol. Hum. Reprod., April 1, 2008; 14(4): 245 - 249. [Abstract] [Full Text] [PDF]

				P. T. Luoma, J. Eerola, S. Ahola, A. H. Hakonen, O. Hellstrom, K. T. Kivisto, P. J. Tienari, and A. Suomalainen Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease Neurology, September 11, 2007; 69(11): 1152 - 1159. [Abstract] [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]

				G. Hudson and P. F. Chinnery Mitochondrial DNA polymerase-{gamma} and human disease Hum. Mol. Genet., October 15, 2006; 15(suppl_2): R244 - R252. [Abstract] [Full Text] [PDF]

				E. Guarducci, F. Nuti, L. Becherini, M. Rotondi, G. Balercia, G. Forti, and C. Krausz Estrogen receptor {alpha} promoter polymorphism: stronger estrogen action is coupled with lower sperm count Hum. Reprod., April 1, 2006; 21(4): 994 - 1001. [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]

				Y. Ahda, J. Gromoll, A. Wunsch, K. Asatiani, M. Zitzmann, E. Nieschlag, and M. Simoni Follicle-Stimulating Hormone Receptor Gene Haplotype Distribution in Normozoospermic and Azoospermic Men J Androl, July 1, 2005; 26(4): 494 - 499. [Abstract] [Full Text] [PDF]

				I.E. Aknin-Seifer, R.L. Touraine, H. Lejeune, C. Jimenez, J. Chouteau, J.P. Siffroi, K. McElreavey, T. Bienvenu, C. Patrat, and R. Levy Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study Hum. Reprod., March 1, 2005; 20(3): 736 - 740. [Abstract] [Full Text] [PDF]