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https://www.readbyqxmd.com/read/28521575/high-frequency-of-de-novo-daz-microdeletion-in-sperm-nuclei-of-subfertile-men-possible-involvement-of-genome-instability-in-idiopathic-male-infertility
#1
Hossein Mozdarani, Pegah Ghoraeian, Sohail Mozdarani, Parvin Fallahi, Anahita Mohseni-Meybodi
The occurrence and diagnosis of Y-chromosome microdeletions, specifically deletions of the DAZ (Deleted in Azoospermia) genes are an important issue in male infertility. Screening Y chromosome microdeletion is mainly done using polymerase chain reaction (PCR) on blood leukocytes. However, there is some evidence indicating that presence of DAZ in somatic cells might not be indicative of its presence in the germ cell lineage. Therefore, a total of 130 men with poor semen quality were examined for presence of DAZ microdeletion in their leukocytes...
May 19, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28510703/long-chain-fatty-acid-triglyceride-tg-metabolism-disorder-impairs-male-fertility-a-study-using-adipose-triglyceride-lipase-deficient-mice
#2
Hidetake Masaki, Namhyo Kim, Hitomi Nakamura, Keiichi Kumasawa, Eriko Kamata, Ken-Ichi Hirano, Tadashi Kimura
STUDY QUESTION: Does the deletion of adipose triglyceride lipase (Atgl) gene impair male fertility? SUMMARY ANSWER: The deletion of Atgl gene impaired male fertility but the effect was partially reversed by a low long chain triglyceride (TG) diet. WHAT IS KNOWN ALREADY: ATGL specifically hydrolyses long-chain fatty acid triglyceride (TG) to diacylglycerol and a high level of expression of ATGL in testes has been reported. However, the role of ATGL in male fertility is unknown...
May 16, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28498920/copy-number-variation-of-functional-rbmy1-is-associated-with-sperm-motility-an-azoospermia-factor-linked-candidate-for-asthenozoospermia
#3
Yuanlong Yan, Xiling Yang, Yunqiang Liu, Ying Shen, Wenling Tu, Qiang Dong, Dong Yang, Yongyi Ma, Yuan Yang
STUDY QUESTION: What is the influence of copy number variation (CNV) in functional RNA binding motif protein Y-linked family 1 (RBMY1) on spermatogenic phenotypes? SUMMARY ANSWER: The RBMY1 functional copy dosage is positively correlated with sperm motility, and dosage insufficiency is an independent risk factor for asthenozoospermia. WHAT IS KNOWN ALREADY: RBMY1, a multi-copy gene expressed exclusively in the adult testis, is one of the most important candidates for male infertility in the azoospermia factor (AZF) region of the Y-chromosome...
May 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28456834/spermatogenic-failure-and-the-y-chromosome
#4
REVIEW
C Krausz, E Casamonti
The Y chromosome harbors a number of genes essential for testis development and function. Its highly repetitive structure predisposes this chromosome to deletion/duplication events and is responsible for Y-linked copy-number variations (CNVs) with clinical relevance. The AZF deletions remove genes with predicted spermatogenic function en block and are the most frequent known molecular causes of impaired spermatogenesis (5-10% of azoospermic and 2-5% of severe oligozoospermic men). Testing for this deletion has both diagnostic and prognostic value for testicular sperm retrieval in azoospermic men...
May 2017: Human Genetics
https://www.readbyqxmd.com/read/28456540/azfa-microdeletions-occurrence-in-chinese-infertile-males-and-novel-deletions-revealed-by-semiconductor-sequencing
#5
Xiang-Yin Liu, Hong-Yang Zhang, Da-Xin Pang, Lin-Tao Xue, Xiao Yang, Yu-Shuai Li, Rui-Zhi Liu
OBJECTIVE: To evaluate the frequency of AZFa microdeletions among infertile males, and establish a new high-throughput sequencing method to detect novel deletion types. METHODS: A total of 3,731 infertile men were included. Karyotype analysis was performed using G-band staining of peripheral blood lymphocytes. Polymerase chain reaction (PCR) amplification using specific sequence-tagged sites (STS) was performed to screen for AZF region microdeletions of the Y chromosome...
April 26, 2017: Urology
https://www.readbyqxmd.com/read/28450650/y-chromosomal-microdeletion-in-idiopathic-azoospermic-and-severe-oligozoospermic-indonesian-men
#6
Ponco Birowo, Donny Eka Putra, Mewahyu Dewi, Nur Rasyid, Akmal Taher
AIM: to detect Y-chromosomal microdeletion in Indonesian men with azoospermia or severe oligozoospermia using multiplex PCR. METHODS: we performed 2 multiplex PCR amplifications of the Azoospermia Factor (AZF) region in 71 men. Criteria for including a patient were fulfilled if they presented with azoospermia or severe oligozoospermia, with or without additional abnormalities of sperm motility or of head morphology, raised or normal levels of FSH, normal levels of LH and testosterone, and with no evidence of testicular tumors or other abnormalities...
January 2017: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/28444885/hypoxia-induced-apoptosis-of-mouse-spermatocytes-is-mediated-by-hif-1%C3%AE-through-a-death-receptor-pathway-and-a-mitochondrial-pathway
#7
Jun Yin, Bing Ni, Wei-Gong Liao, Yu-Qi Gao
Hypoxia in vivo induces oligozoospermia, azoospermia and degeneration of the germinal epithelium, but the underlying molecular mechanism of this induction is not fully clarified. The aim of this study was to investigate the role of the death receptor pathway and the mitochondrial pathway in hypoxia-induced apoptosis of mouse GC-2spd (GC-2) cells and the relationship between HIF-1α and apoptosis of GC-2 cells induced by hypoxia. GC-2 cells were subjected to 1% oxygen for 48 h. Apoptosis was detected by flow cytometry, TUNEL staining, LDH, caspase-3/8/9 in the absence and presence of HIF-1α siRNA...
April 26, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28421111/xrcc5-vntr-xrcc6-61c-g-and-xrcc7-6721g-t-gene-polymorphisms-associated-with-male-infertility-risk-evidences-from-case-control-and-in-silico-studies
#8
Danial Jahantigh, Abasalt Hosseinzadeh Colagar
We evaluate the association between genetic polymorphisms of XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T with male infertility susceptibility. A total of 392 men including 178 infertile males (102 idiopathic azoospermia and 76 severe oligozoospermia) and 214 healthy controls were recruited. XRCC6 -61C>G and XRCC7 6721G>T genotyping was performed by PCR-RFLP whereas XRCC5 VNTR was performed by PCR. The 2R allele and 2R allele carriers of XRCC5 VNTR polymorphism significantly decreased risk of male infertility...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28405113/a-new-dawn-for-intrauterine-insemination-efficient-and-prudent-practice-will-benefit-patients-the-fertility-industry-and-the-healthcare-bodies
#9
REVIEW
Gulam Bahadur, Roy Homburg, Ansam Al-Habib
This review addresses the misplaced facts about the IUI procedure within a lucrative fertility industry. Evidence suggests IUI must be a first-line treatment option for most couples except in cases of bilateral tubal blockage and severe oligozoospermia. We introduce the concept of using 'consecutive ejaculation' in men with subfertility and one which can radically alter the male infertility definition, thereby providing a new approach to examining and managing male factor infertility. The review also explores various aspects affecting the IUI procedure, its determinants of success, risks and areas for future improvements...
April 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/28401488/a-no-stop-mutation-in-mageb4-is-a-possible-cause-of-rare-x-linked-azoospermia-and-oligozoospermia-in-a-consanguineous-turkish-family
#10
Ozlem Okutman, Jean Muller, Valerie Skory, Jean Marie Garnier, Angeline Gaucherot, Yoni Baert, Valérie Lamour, Munevver Serdarogullari, Meral Gultomruk, Albrecht Röpke, Sabine Kliesch, Viviana Herbepin, Isabelle Aknin, Moncef Benkhalifa, Marius Teletin, Emre Bakircioglu, Ellen Goossens, Nicolas Charlet-Berguerand, Mustafa Bahceci, Frank Tüttelmann, STéphane Viville
PURPOSE: The purpose of this study was to identify mutations that cause non-syndromic male infertility using whole exome sequencing of family cases. METHODS: We recruited a consanguineous Turkish family comprising nine siblings with male triplets; two of the triplets were infertile as well as one younger infertile brother. Whole exome sequencing (WES) performed on two azoospermic brothers identified a mutation in the melanoma antigen family B4 (MAGEB4) gene which was confirmed via Sanger sequencing and then screened for on control groups and unrelated infertile subjects...
May 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28388287/in-silico-analysis-of-non-synonymous-single-nucleotide-polymorphisms-in-human-dazl-gene-associated-with-male-infertility
#11
Mili Nailwal, Jenabhai B Chauhan
In living systems the most frequent type of genetic mutation is the single nucleotide polymorphism (SNP). Non-synonymous SNPs (nsSNPs) or missense mutations arise in coding regions of a particular gene. nsSNPs result in a single amino acid substitution which may have effects on the structure and/or function of proteins. Spermatogenesis is a complex process where haploid spermatozoa are formed. The deleted in azoospermia like (DAZL) gene has a relationship with male infertility and dysfunction of DAZL may decrease the sperm count which leads to oligozoospermia or azoospermia...
April 7, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28370107/association-of-the-c-9c-t-and-c-368a-g-transitions-in-h2bfwt-gene-with-male-infertility-in-an-iranian-population
#12
A Rafatmanesh, H Nikzad, A Ebrahimi, M Karimian, T Zamani
The H2BFWT (H2B family, member W, testis specific) gene is a testis-specific histone which is involved in the spermatogenesis process. This study aimed to investigate the association of H2BFWT gene c.-9C>T and c.368A>G polymorphisms with male infertility in an Iranian population. The 232 independent individuals, including 109 infertile men and 123 healthy controls, were recruited from IVF centre (Kashan, Iran). The allele types of c.-9C>T and c.368A>G polymorphisms were detected by using PCR-RFLP method...
March 30, 2017: Andrologia
https://www.readbyqxmd.com/read/28361989/testis-transcriptome-modulation-in-klinefelter-patients-with-hypospermatogenesis
#13
Marco D'Aurora, Alberto Ferlin, Andrea Garolla, Sara Franchi, Laura D'Onofrio, Oriana Trubiani, Giandomenico Palka, Carlo Foresta, Liborio Stuppia, Valentina Gatta
The main genetic cause of male infertility is represented by the Klinefelter Syndrome (KS), a condition accounting for 3% of all cases of infertility and up to15% of cases of azoospermia. KS is generally characterized by azoospermia; approximately 10% of cases have severe oligozoospermia. Among these, the 30-40% of patients show hypospermatogenesis. The mechanisms leading to adult testis dysfunctions are not completely understood. A microarray transcriptome analysis was performed on testis biopsies obtained from three KS patients with hypospermatogenesis and three control subjects...
March 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28341418/a-novel-y-chromosome-microdeletion-potentially-associated-with-defective-spermatogenesis-identified-by-custom-array-comparative-genome-hybridization
#14
Tianwen He, Xiangzhong Zhang, Hua Deng, Weiping Zhou, Xin Zhao, Hui Zhao, Jian Lu, Yichun Zheng, Changbin Zhang, Liang Zhang, Aihua Yin
Male infertility is a major health problem worldwide. Oligospermia and azoospermia are the most common symptoms of this disorder. Despite recent advances, the aetiopathogenesis of defective spermatogenesis remains largely uncertain. The aim of this study is to discover unknown or novel chromosome aberrations associated with male reproductive failure. We developed a high-resolution custom array comparative genomic hybridization for initial screening of copy number variations in 10 patients with idiopathic oligozoospermia and azoospermia and eight normal fertile men...
January 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28333030/semen-quality-before-cryopreservation-and-after-thawing-in-543-patients-with-testicular-cancer
#15
Antonio MacKenna, Javier Crosby, Cristián Huidobro, Eduardo Correa, Gonzalo Duque
OBJECTIVE: The main objective of this study was to assess semen characteristics of patients with testicular cancer before cryopreservation and after thawing, to evaluate the consequences of this technique on sperm quality in patients with testicular cancer. METHODS: Five hundred eighty-nine samples from 543 patients with testicular cancer were cryopreserved between 1995 and 2015, one aliquot per patient was used for a thawing test to assess the impact of cryopreservation on sperm motility; semen analysis was performed before cryo preservation and after thawing, the result interpretation was carried out using the 2010 World Health Organization (WHO) Laboratory Manual, and consent forms were signed by the patients for freezing and when sperm was used for reproductive purposes...
February 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28296202/dna-methylation-imprinting-errors-in-spermatogenic-cells-from-maturation-arrest-azoospermic-patients
#16
P I Marques, S Fernandes, F Carvalho, A Barros, M Sousa, C J Marques
Imprinting errors have been described in spermatozoa from infertile patients with oligozoospermia and azoospermia. However, little is known about methylation of imprinted genes in other spermatogenic cells from azoospermic patients. Therefore, we aimed to evaluate the methylation status of single CpGs located in the differentially methylated regions (DMRs) of two imprinted genes, one paternally (H19) and one maternally (MEST) methylated, in primary spermatocytes of azoospermic patients presenting complete (MAc, n = 7) and incomplete (MAi, n = 8) maturation arrest, as well as in other spermatogenic cells from MAi patients that presented focus of complete spermatogenesis in some seminiferous tubules...
May 2017: Andrology
https://www.readbyqxmd.com/read/28261628/partial-and-complete-microdeletions-of-y-chromosome-in-infertile-males-from-south-of-iran
#17
Raheleh Masoudi, Liusa Mazaheri-Asadi, Shahryar Khorasani
Y chromosome microdeletions are the second genetic cause of male infertility. The incidence of Y chromosome microdeletions can vary considerably depending on several factors, including patient selection criteria, population composition, and diagnostic protocols. They are associated with spermatogenic failure and lead to azoospermia or oligozoospermia. The advance in assisted reproductive technology and intracytoplasmic sperm injection, and the possibility of genetic defect transmission to the next generation make it necessary to improve our knowledge about the various factors leading to spermatogenic impairment...
December 2016: Molecular Biology Research Communications
https://www.readbyqxmd.com/read/28235483/effect-of-lipid-metabolism-on-male-fertility
#18
Namhyo Kim, Hitomi Nakamura, Hidetake Masaki, Keiichi Kumasawa, Ken-Ichi Hirano, Tadashi Kimura
Cholesterol and lipid homeostasis is important for male fecundity. However, the plasma total cholesterol level does not reflect sperm concentration and motility. Adipose tissue in mammals is the main tissue contributing to the dynamic equilibrium of lipid synthesis and catabolism. However, recent studies suggested that local lipolysis has an important role in male fertility. If so, which plasma lipid metabolism parameter reflects sperm concentration and motility? Leptin receptor-deficient db/db mice show hyperphagia, hyperglycemia, hypercholesterolemia, hypertriglyceridemia, morbid obesity and are reported to be infertile...
April 8, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28230818/post-chornobyl-remote-radiation-effects-on-human-sperm-and-seminal-plasma-characteristics
#19
S V Andreychenko, A V Klepko, L V Gorban, O A Motryna, L V Grubska, O V Trofimenko
AIM: The research was aimed on analysis of the remote consequences of Chornobyl accident on the reproductive function of men adult residing in Ukraine. MATERIALS AND METHODS: 232 male volunteers with mean age of 34 years (range 20-47) from 5 different regions of Ukraine (Zhytomyr, Ivano-Frankivsk, Kyiv, Poltava, and Kyiv city) were enrolled in cross-sectional studies of long term radiation effects on seminal plasma and sperm. All manipulations, analysis and classification of ejaculates were done accordingly to WHO recommendations...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28214572/clinical-relevance-of-oxidation-reduction-potential-in-the-evaluation-of-male-infertility
#20
Ashok Agarwal, Siew May Wang
OBJECTIVE: To evaluate (1) the relationship between oxidation-reduction potential (ORP) and abnormal sperm quality, and (2) the changes in ORP and sperm parameters over time, in search of a potential surrogate marker of poor sperm quality that may assist in the diagnosis of oxidative stress-related male infertility. MATERIALS AND METHODS: A total of 194 infertile men were included and 28 patients were identified to have repeated semen analyses and ORP measurements...
February 15, 2017: Urology
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