Mutations in the Methylenetetrahydrofolate Reductase Gene and Methionine Metabolism in male infertility | ||||
Bulletin of Egyptian Society for Physiological Sciences | ||||
Article 17, Volume 31, Issue 2, June 2011, Page 221-240 PDF (356.1 K) | ||||
Document Type: Original Article | ||||
DOI: 10.21608/besps.2011.36143 | ||||
View on SCiNiTO | ||||
Authors | ||||
Adel Zalata* 1; Abdelnaser Badawy1; Naglaa Mokhtar1; Mohamed Serria1; Hanaa Abdeen1; Moheiddin Alghobary2; Rizk Elbaz3; Manal Ramadan4 | ||||
1Medical Biochemistry Dept., Faculty of Medicine, Mansoura University | ||||
2Andrology Dept., Faculty of Medicine, Mansoura University | ||||
3Genetic Unit of Pediatric Dept. Faculty of Medicine, Mansoura University | ||||
4Zoology Dept., Faculty of Science Mansoura University | ||||
Abstract | ||||
Background and Aim: The human methylenetetrahydrofolate reductase (MTHFR) gene plays a crucial role in folate metabolism. Data regarding the influence of MTHFR gene polymorphisms on male fertility status are conflicting. The present study aimed to investigate the possible role of genetic variants of the MTHFR 677 C→T and 1298 A→C and the seminal plasma levels of S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH) in male infertility. Patients & Methods: The present study included 229 men attending the Andrology Outpatient Clinic, Mansoura University Hospital. The semen samples obtained from men were grouped according to the profile of seminogram into normozoospermic (N), oligoathenoteratozoospermia (OAT) and azoospermia (AZ). Spermatozoa were separated and the purified spermatozoa were used for assessment of acrosine activity by gelatinolysis. High Performance Liquid Chromatography equipped with a reversed-phase column-C18, and UV detector at 254 nm was used to separate SAM and SAH. Genomic DNA was isolated from peripheral blood leukocytes by Genta genomic DNA purification kit. MTHFR 677 C→T and 1298 A→C polymorphisms were analyzed using PCR, restriction enzymes and agarose gel electrophoresis. Results: The results of the current study showed that SAM, SAM/SAH ratio and acrosine activity index to be significantly decreased in OAT and AZ compared with normozoospermia. MTHR 1298AA and 677CC genotypes frequency was significantly higher in OAT and AZ groups when compared to N group..Also, SAH were significantly increased in MTHR 1298AA and 677CC genotypes. Conclusion: The polymorphisms in the MTHR A1298C and C677T gene were associated with abnormal sperm function, morphology and motility. Carrier of 1298AA and 677CC genotypes had higher level of SAH. It could be concluded that methionine metabolism is abnormal in infertile men denoted by impaired SAM and SAH levels. Further studies may be of benefit for new strategies in therapy for male infertility. | ||||
Statistics Article View: 82 PDF Download: 101 |
||||