scholarly journals Genetic Association of the Functional WDR4 Gene in Male Fertility

2021 ◽  
Vol 11 (8) ◽  
pp. 760
Author(s):  
Yu-Jia Wang ◽  
Eko Mugiyanto ◽  
Yun-Ting Peng ◽  
Wan-Chen Huang ◽  
Wan-Hsuan Chou ◽  
...  

Infertility is one of the important problems in the modern world. Male infertility is characterized by several clinical manifestations, including low sperm production (oligozoospermia), reduced sperm motility (asthenozoospermia), and abnormal sperm morphology (teratozoospermia). WDR4, known as Wuho, controls fertility in Drosophila. However, it is unclear whether WDR4 is associated with clinical manifestations of male fertility in human. Here, we attempted to determine the physiological functions of WDR4 gene. Two cohorts were applied to address this question. The first cohort was the general population from Taiwan Biobank. Genomic profiles from 68,948 individuals and 87 common physiological traits were applied for phenome-wide association studies (PheWAS). The second cohort comprised patients with male infertility from Wan Fang Hospital, Taipei Medical University. In total, 81 male participants were recruited for the genetic association study. Clinical records including gender, age, total testosterone, follicle-stimulating hormone (FSH), luteinizing hormone (LH), total sperm number, sperm motility, and sperm morphology were collected. In the first cohort, results from PheWAS exhibited no associations between WDR4 genetic variants and 87 common physiological traits. In the second cohort, a total of four tagging single-nucleotide polymorphisms (tSNPs) from WDR4 gene (rs2298666, rs465663, rs2248490, and rs3746939) were selected for genotyping. We found that SNP rs465663 solely associated with asthenozoospermia. Functional annotations through the GTEx portal revealed the correlation between TT or TC genotype and low expression of WDR4. Furthermore, we used mouse embryonic fibroblasts cells from mwdr4 heterozygous (+/‒) mice for functional validation by western blotting. Indeed, low expression of WDR4 contributed to ROS-induced DNA fragmentation. In conclusion, our results suggest a critical role of WDR4 gene variant as well as protein expression in asthenozoospermia.

2016 ◽  
Vol 11 (1) ◽  
pp. 50-53
Author(s):  
Mah Jabeen Ara ◽  
Sk Md Bahar Hussain ◽  
Mamun Ur Rashid

Introduction: Approximately 15% of couples are infertile. Male infertility plays an important role in about half of these couples. This study has been done to determine whether sperm morphology and motility do really affect sperm count or spermatogenesis and at the same time causes a problem with fertility.Objectives: The objective of this study was to evaluate a male’s inability to cause pregnancy in a fertile female.Materials and Methods: This is a prospective study of 100 diagnosed infertile and subfertile couples in the age group of 23-58 yrs old male. They were selected from 01 March 2013 to 28 Feb 2014 undergoing treatment for infertility in Dhaka CMH. On the basis of sperm count the cases were grouped as follows: Normozoospermia, oligozoospermia & Azoospermia. Semen analysis was done in all the cases and the results were described with arithmetic mean and standard deviation.Results: Normozoospermia: Mean and SD of sperm count, sperm abnormality, sperm motility are 65.98± 5.05, 24.44±1.57 and 45.5±2.94 respectively; Oligozoospermia: Mean and SD of sperm count, sperm abnormality, sperm motility are 7.74±1.23, 41.1±3.78, 14.54±2.77 respectively; Azoospermia: Mean and SD of sperm count, sperm abnormality, sperm motility are absent.Conclusion: Here data statistically showed person with normozoospermia having good sperm morphology and motility than oligozoospermia and azoospermic subjects thereby causing male infertility which is responsible for hindrance in achieving pregnancy clinically.Journal of Armed Forces Medical College Bangladesh Vol.11(1) 2015: 50-53


2015 ◽  
Vol 3 (3) ◽  
Author(s):  
Piere Tendean ◽  
Lydia Tendean ◽  
Benny Wantouw

Abstract: Spermiogram is an examination for determination of male fertility. Evaluation of a spermiogram consists of macroscopical and microscopical examination of sperm cells, which are concentration, motility and morphology of sperm cells. This study aimed to obtain the spermiogram of infertile patients with varicocele. This was an observational study with a cross-sectional design by using sperm samples of 30 infertile patients with varicocele. Evaluation of spermatozoa quaity was determined by using WHO standard 2010. The results showed that the sperm concentrations were <15 million/ml, sperm motility <40% /field, and sperm morphology <30%/field. Conclusion: In this study the spermiogram of infertile patients with varicocele was abnormal with oligozoospermi, asthenozoospermi, and teratozoospermi.Keywords: varicocele, spermiogramAbstrak: Spermiogram merupakan salah satu pemeriksaan untuk menentukan fertilitas seorang pria. Evaluasi spermiogram meliputi makroskopik dan mikroskopik sel spermatozoa yaitu konsentrasi, motilitas, dan morfologi sel spermatozoa. Penelitian ini bertujuan untuk mendapatkan gambaran spermiogram penderita infertil dengan varikokel. Penelitian ini bersifat observasional dengan desain potong lintang dengan menggunakan sampel sperma dari 30 penderita infertil dengan varikokel. Evaluasi kualitas spermatozoa berdasarkan standard WHO 2010. Hasil penelitian ini didapatkan yaitu konsentrasi sperma <15 juta/ml, motilitas sperma <40%/lp, dan morfologi sperma < 30%/lp. Simpulan: Pada penelitian ini gambaran spermiogram penderita infertil dengan varikokel ialah abnormal dengan oligozoospermi, asthenozoospermi, dan teratozoospermi. Kata kunci: varikokel, spermiogram


2004 ◽  
Vol 279 (32) ◽  
pp. 33742-33750 ◽  
Author(s):  
Gbolahan W. Okunade ◽  
Marian L. Miller ◽  
Gail J. Pyne ◽  
Roy L. Sutliff ◽  
Kyle T. O'Connor ◽  
...  

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Shin-ya Maruyama ◽  
Momoe Ito ◽  
Yuusuke Ikami ◽  
Yu Okitsu ◽  
Chizuru Ito ◽  
...  

Author(s):  
Sunday Adakole Ogli ◽  
Samuel O. Odeh

Environmental pollutants such as di-(2-ethylhexyl) phthalate (DEHP) adversely affect reproductive system tissue differentiation and functions with exposure at intrauterine, neonatal or adult stages of life, thereby potentiating male infertility later in life. World health organization estimates a global infertility prevalent rate of 10-15%, and 20-30% among Nigerians, with male factor constituting about 40-50% of infertility cases. This study was designed to investigate the effect(s) of oral vitamins C and E on DEHP induced changes in some semen parameters and serum testosterone concentration in adult Wistar rats. Seventy (70) adult male Wistar rats weighing between 156-250 g were randomised into 7 experimental groups 1, 2, 3, 4, 5, 6 and 7 (group n=10). Animals in groups 1, 2 and 3 were treated with 0.02 mg, 20 mg, 200 mg oral DEHP/kg bw daily respectively, while those in groups 4, 5 and 6, in addition to the above DEHP treatments, were treated with 100 mg ascorbic acid and 67.5 mg α-tocopherol per kg bw daily respectively. Rats in group 7 served as Control and were treated with vehicle. All treatments lasted for 60 days. After, over night fasting, samples of semen and serum were obtained for analysis. Results obtained were expressed as mean ± standard deviation and analyzed for significant differences in means using one way ANOVA and Post Hoc test. Relative to the control reference values, groups exposed to oral DEHP had significant (p<0.05) reduction in sperm count, total sperm motility, active sperm motility, normal sperm morphology, serum testosterone concentration  and serum super oxide dismutase levels to 31.70±18.68x106 cells/mL, 38.60±24.78%, 8.50±5.66%, 38.00±18.00%, 9.56±1.34 ng/mL and 0.017±0.0013 units respectively. Sluggish sperm motility and abnormal sperm morphology significantly (p˂0.01) increased to 39.70±13.05% and 68.50±18.42% respectively. In the groups that had DEHP co-treatments with oral ascorbic acid and α-tocopherol, all studied parameters tended to comparative indifference statistically, with the Controls values. This indicates a protective function against DEHP effects on the studied parameters. The study has shown therefore, that DEHP inflicts oxidative stress in the reproductive system which potentially suppresses serum testosterone concentration with attendant derangements in the qualitative and quantitative sperm cells in adult Wistar rats, and thereby enhancing male infertility. However, the antioxidants ascorbic acid and α-tocopherol protects the gonadal and sperm cells from the harmful effects of DEHP by ameliorating oxidative stress and improving male fertility. This implies that there is need to avoid prolonged exposure to DEHP while encouraging the daily intake of oral ascorbic acid and α-tocopherol. 


Author(s):  
Meltem Mermer ◽  
Yasemin Akdevelioğlu

Obesity causes many health problems as well as having negative effects on fertility. There is a multifaceted relationship between obesity and male infertility. Male fertility is associated with sperm concentration, motility and morphology. Testosterone (total and free) and gonadotropin levels were low and estrogen levels were found to be high in obese men. The decrease in androgen levels varies based on the degree of obesity. High body mass index is inversely related to total sperm count, sperm concentration, sperm morphology and number of motile sperm. Leptin and ghrelin are hormones that influence body weight regulation and eating behaviors. Serum leptin level, which is high in obese infertile men, showed a significant positive correlation with abnormal sperm morphology, serum FSH, LH, prolactin level and showed a significant negative correlation with sperm concentration, sperm motility and serum testosterone level. Further research is needed on the effects of ghrelin levels on male infertility. The relationship between obesity and erectile dysfunction can be explained by decreased testosterone levels and elevation of some proinflammatory cytokine levels. Decreased physical activity due to obesity, long-term sitting increases testicular temperature and affects sperm production negatively. There is a multifaceted relationship between obesity, metabolic syndrome and type 2 diabetes and serum testosterone and SHBG. Diet and exercise showed improvement in testosterone levels and sperm concentration due to decreased body weight. However, studies on this subject are extremely limited. The possible effects of weight loss on successful infertility treatment of obese men should not be ignored.


2020 ◽  
Vol 16 ◽  
Author(s):  
Hamed Heydari ◽  
Rafighe Ghiasi ◽  
Saber Ghaderpour ◽  
Rana Keyhanmanesh

Introduction: Obesity resulted by imbalance between the intake of energy and energy consumption can lead to growth and metabolic disease development in people. Both in obese men and animal models, several studies indicate that obesity leads to male infertility. Objective: This review has discussed some mechanisms involved in obesity-induced male infertility. Method: Online documents were searched through Science Direct, Pubmed, Scopus, and Google Scholar websites dating from 1959 to recognize studies on obesity, kisspeptin, leptin, and infertility. Results: Obesity induced elevated inflammatory cytokines and oxidative stress can affect male reproductive functions including spermatogenesis disorders, reduced male fertility power and hormones involved in hypothalamus-pituitarygonadal axis. Conclusion: There is significant evidence that obesity resulted in male infertility. obesity has negative effect on male reproductive function via several mechanisms such as inflammation and oxidative stress.


Impact ◽  
2020 ◽  
Vol 2020 (6) ◽  
pp. 73-75
Author(s):  
Akihiko Watanabe

One of the unifying traits of life on this planet is reproduction, or life's ability to make copies of itself. The mode of reproduction has evolved over time, having almost certainly begun with simple asexual reproduction when the ancestral single celled organism divided into two. Since these beginnings' life has tried out numerous strategies, and perhaps one of the most important and successful has been sexual reproduction. This form of reproduction relies on the union of gametes, otherwise known as sperm and egg. Evolutionarily, sexual reproduction allows for greater adaptive potential because the genes of two unique individuals have a chance to recombine and mix in order to produce a new individual. Unlike asexual reproduction which produces genetically-identical clones of the parent individual, sex produces offspring with novel genes and combinations of genes. Therefore, in the face of new selective pressures there is a higher chance that one of these novel genetic profiles will produce an adaptation that is advantageous in the new circumstances. Dr Akihiko Watanabe is a reproductive biologist based in the Department of Biology, Faculty of Science Yamagata University in Japan, he is currently working on three research projects; a comparative study on the signalling pathways for inducing sperm motility and acrosome reaction in amphibians, the mechanism behind the adaptive modification of sperm morphology and motility, and the origin of sperm motility initiating substance (SMIS).


2019 ◽  
Vol 8 (2) ◽  
pp. 162 ◽  
Author(s):  
Pece Kocovski ◽  
Xiangrui Jiang ◽  
Claretta D’Souza ◽  
Zhenjiang Li ◽  
Phuc Dang ◽  
...  

The neuropsychiatric symptoms of multiple sclerosis (MS), such as anxiety and depression, can result from disease activity itself as well as psychological reaction to an unfavorable diagnosis. Accordingly, the literature reports evidence of increased anxiety-like behavior in experimental autoimmune encephalomyelitis (EAE), an accepted MS model. Due to the recently described critical role of platelets in inflammation and autoimmune disease, we examined the relationship between platelets, inflammation, and anxiety-like behavior in EAE. In the elevated plus maze, EAE-induced C57BL/6J mice showed decreased time spent in the open arms relative to vehicle-only controls, demonstrating an increase in anxiety-like behavior. This effect occurred in the presence of platelet–neuron association, but absence of lymphocytic infiltration, in the hippocampal parenchyma. Platelet depletion at the pre-clinical disease stage, using antibody-mediated lysis prevented the EAE-induced increase in anxiety-like behavior, while no significant difference in distance moved was recorded. Furthermore, platelet depletion was also associated with reduction of the pro-inflammatory environment to control levels in the hippocampus and prevention of EAE disease symptomology. These studies demonstrate the high efficacy of a platelet-targeting approach in preventing anxiety-like symptoms and clinical manifestations of EAE and have implications for the treatment of neuropsychiatric symptoms in MS.


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