Balkan Journal of Medical Genetics

ASSOCIATION OF THE MTHFR C677T (rs1801133) POLYMORPHISM WITH IDIOPATHIC MALE INFERTILITY IN A LOCAL PAKISTANI POPULATION
Irfan M, Ismail M, Azhar Beg M, Shabbir A, Rashid Kayani A, Kaukab Raja G
*Corresponding Author: Muhammad Irfan, M.Phil., Department of Zoology, Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan. Tel: +92-344-551-8382. Email: muhammadirfan11@gmail.com
page: 51

INTRODUCTION

Infertility is a state of failure to conceive in a year of unprotected intercourse with the same partner [1]. The male factors are responsible of infertility in 20.0 to 25.0% of couples [2]. In men, the main causes of infertility are oligospermia, asthenospermia, teratozoospermia and azoospermia [3,4]. Like other nutritional factors, availability of bioactive folate has recently been found to be related to male fertility [5]. Folates are an inter-convertible group of enzymes that metabolize amino acid, synthesize and methylate deoxy-ribonuleotides (dNTPs) [6,7]. Methyltetrahydrofolate (MethylTHF) is the biologically active form of folate in plasma. An important enzyme, methylenetetrahydrofolate reductase (MTHFR), reduces 5,10 methylenetetrahydrofolate into 5, MethylTHF and during this reduction, a homocysteine is converted into methionine by attaining a methyl group from methylenetetrahydrofolate [8]. Methionine is converted to S-adenosyl methionine that acts as a ‘methyl’ donor for DNA methylation. The 5,10 methylenetetrahydrofolate converts uracil into thymine for DNA synthesis [9]. Therefore, deﬁciency in folate intake or polymorphism(s) in the enzymes of the folate pathway may result in aberrant DNA synthesis and methylation, especially in rapidly dividing cells such as bone marrow and spermatogonia [10]. The MTHFR gene is composed of 11 exons and is located on the short arm of chromosome 1 at 1p36.22 [8,11]. Being an important enzyme of folate metabolism, the MTHFR gene product has been studied and found in a total of 65 polymorphisms. The C677T (rs1801133) polymorphism in the MTHFR gene reduces the enzyme activity by 35.0% [11] resulting in impairment of nucleic acid metabolic pathways. However, the condition can be managed by folic acid supplementation for determining the frequency of the MTHFR C677T mutation is a prerequisite. The results of many of the molecular epidemiological studies on the association of the MTHFR C677T polymorphism and male infertility remain controversial due to small sample size, ambiguously deﬁning infertility and confounding factors including ethnicity. In the present study, we determined an association between idiopathic sperm disorders and the MTHFR 677 CT polymorphism.

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact