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https://www.readbyqxmd.com/read/28068922/functional-changes-in-mrna-expression-and-alternative-pre-mrna-splicing-associated-with-the-effects-of-nutrition-on-apoptosis-and-spermatogenesis-in-the-adult-testis
#1
Yongjuan Guan, Guanxiang Liang, Graeme B Martin, Le Luo Guan
BACKGROUND: The effects of nutrition on testis mass in the sexually mature male have long been known, however, the cellular and molecular processes of the testis response to nutrition was not fully understood. METHODS: We tested whether the defects in spermatogenesis and increases in germ cell apoptosis in the testis that are induced by under-nutrition are associated with changes in mRNA expression and pre-mRNA alternative splicing using groups of 8 male sheep fed for a 10% increase or 10% decrease in body mass over 65 days...
January 10, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28055014/globozoospermia-and-lack-of-acrosome-formation-in-gm130-deficient-mice
#2
Feng Han, Chunyi Liu, Lianjun Zhang, Min Chen, Yang Zhou, Yan Qin, Yaqing Wang, Min Chen, Shuguang Duo, Xiuhong Cui, Shilai Bao, Fei Gao
Globozoospermia is a common reproductive disorder that causes male infertility in humans, and the malformation or loss of acrosomes is the prominent feature of this disease. Although the acrosome is thought to be derived from the Golgi apparatus, the detailed molecular mechanisms remain unclear. GM130 is a cis-side localized Golgi matrix protein,whereas the physiological functions of this protein remain elusive. Here we showed that inactivation of GM130-caused male infertility in mouse model. The primary defects were the absence of acrosomes, round sperm heads, and aberrant assembly of the mitochondrial sheath, which comprise the characteristic features of human globozoospermia...
January 5, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28052027/estrogen-receptor-%C3%AE-ligation-inhibits-hodgkin-lymphoma-growth-by-inducing-autophagy
#3
Marina Pierdominici, Angela Maselli, Silvia L Locatelli, Laura Ciarlo, Giuseppa Careddu, Mario Patrizio, Barbara Ascione, Antonella Tinari, Carmelo Carlo-Stella, Walter Malorni, Paola Matarrese, Elena Ortona
Although Hodgkin lymphoma (HL) is curable with current therapy, at least 20% of patients relapse or fail to make complete remission. In addition, patients who achieve long-term disease-free survival frequently undergo infertility, secondary malignancies, and cardiac failure, which are related to chemotherapeutic agents and radiation therapies. Hence, new therapeutic strategies able to counteract the HL disease in this important patient population are still a matter of study. Estrogens, in particular 17β-estradiol (E2), have been suggested to play a role in lymphoma cell homeostasis by estrogen receptors (ER) β activation...
December 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/28032143/an-evidence-based-review-of-the-genotoxic-and-reproductive-effects-of-sulfur-mustard
#4
REVIEW
Fazlullah Khan, Kamal Niaz, Fatima Ismail Hassan, Mohammad Abdollahi
Sulfur mustard (SM) is a chemical warfare agent which is cytotoxic in nature, and at the molecular level, SM acts as DNA alkylating agent leading to genotoxic and reproductive effects. Mostly, the exposed areas of the body are the main targets for SM; however, it also adversely affects various tissues of the body and ultimately exhibits long-term complications including genotoxic and reproductive effects, even in the next generations. The effect of SM on reproductive system is the reason behind male infertility...
December 28, 2016: Archives of Toxicology
https://www.readbyqxmd.com/read/28030592/a-novel-missense-mutation-224g-t-r75m-in-sry-coding-region-interferes-with-nuclear-import-and-results-in-46-xy-complete-gonadal-dysgenesis
#5
Wufang Fan, Bei Wang, Shanshan He, Tengfei Zhang, Chenxing Yin, Yunping Chen, Shuqi Zheng, Jixia Zhang, Lin Li
SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular mechanism. Here we report a de novo mutation 224G>T (R75M) in SRY associated with a phenotypic female, 46, XY karyotype and dysgerminoma. The wild and mutated SRY were cloned into recombinant plasmid and expressed in cells in vitro, the result showed the mutated SRY is greatly accumulated in cytoplasm while the wild type SRY is mostly localized in nucleus...
2016: PloS One
https://www.readbyqxmd.com/read/28008940/deficiency-of-mkrn2-causes-abnormal-spermiogenesis-and-spermiation-and-impairs-male-fertility
#6
Xu Qian, Lin Wang, Bo Zheng, Zhu-Mei Shi, Xin Ge, Cheng-Fei Jiang, Ying-Chen Qian, Dong-Mei Li, Wei Li, Xue Liu, Yu Yin, Ji-Tai Zheng, Hua Shen, Min Wang, Xue-Jiang Guo, Jun He, Marie Lin, Ling-Zhi Liu, Jia-Hao Sha, Bing-Hua Jiang
Although recent studies have shed insights on some of the potential causes of male infertility, new underlining molecular mechanisms still remain to be elucidated. Makorin-2 (Mkrn2) is an evolutionarily conserved gene whose biological functions are not fully known. We developed an Mrkn2 knockout mouse model to study the role of this gene, and found that deletion of Mkrn2 in mice led to male infertility. Mkrn2 knockout mice produced abnormal sperms characterized by low number, poor motility, and aberrant morphology...
December 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27997882/mutations-in-genes-coding-for-synaptonemal-complex-proteins-and-their-impact-on-human-fertility
#7
Adriana Geisinger, Ricardo Benavente
Human infertility is often classified as idiopathic in both males and females. Meiotic errors may account for at least part of these cases. As the synaptonemal complex (SC, a meiosis-specific protein scaffold) is essential for successful meiosis progression, in this paper, we analyzed the mutations in genes coding for SC components described in infertile patients to assess to what extent alterations in the SC can be related to human infertility. So far, mutations in SYCP3 and SYCE1 genes have been reported...
December 21, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27992447/heat-sensing-receptor-trpv1-is-a-mediator-of-thermotaxis-in-human-spermatozoa
#8
Luca De Toni, Andrea Garolla, Massimo Menegazzo, Sabina Magagna, Andrea Di Nisio, Iva Šabović, Maria Santa Rocca, Valentina Scattolini, Andrea Filippi, Carlo Foresta
The molecular bases of sperm thermotaxis, the temperature-oriented cell motility, are currently under investigation. Thermal perception relies on a subclass of the transient receptor potential [TRP] channels, whose member TRPV1 is acknowledged as the heat sensing receptor. Here we investigated the involvement of TRPV1 in human sperm thermotaxis. We obtained semen samples from 16 normozoospermic subjects attending an infertility survey programme, testis biopsies from 6 patients with testicular germ cell cancer and testis fine needle aspirates from 6 patients with obstructive azoospermia undergoing assisted reproductive technologies...
2016: PloS One
https://www.readbyqxmd.com/read/27989988/novel-mutations-and-structural-deletions-in-tubb8-expanding-mutational-and-phenotypic-spectrum-of-patients-with-arrest-in-oocyte-maturation-fertilization-or-early-embryonic-development
#9
Biaobang Chen, Bin Li, Da Li, Zheng Yan, Xiaoyan Mao, Yao Xu, Jian Mu, Qiaoli Li, Li Jin, Lin He, Yanping Kuang, Qing Sang, Lei Wang
STUDY QUESTION: Are there any new type of mutations and novel phenotypes in patients with arrest in oocyte maturation, fertilization or early embryonic development having tubulin beta eight class VIII (TUBB8) mutations? SUMMARY ANSWER: We identified new types of mutations in TUBB8 associated with maturation, fertilization and developmental arrest. WHAT IS KNOWN ALREADY: We previously found heterozygous mutations and a homozygous frameshift/internal seven amino acid deletion in TUBB8 that are responsible for oocyte maturation arrest...
December 17, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27967242/low-dose-dihydrotestosterone-drives-metabolic-dysfunction-via-cytosolic-and-nuclear-hepatic-androgen-receptor-mechanisms
#10
Stanley Andrisse, Shameka Childress, Yaping Ma, Katelyn Billings, Yi Chen, Ping Xue, Ashley Stewart, Momodou L Sonko, Andrew Wolfe, Sheng Wu
Androgen excess in women is associated with metabolic dysfunction (obesity, hyperinsulinemia, insulin resistance, and increased risk of type 2 diabetes (T2D)) and reproductive dysfunction (polycystic ovaries, amenorrhea, dysregulated gonadotropin release, and infertility). We sought to identify the effects of androgen excess on glucose metabolic dysfunction and the specific mechanisms of action by which androgens are inducing pathology. We developed a mouse model that displayed pathophysiological serum androgen levels with normal body mass/composition to ensure that the phenotypes were directly from androgens and not an indirect consequence of obesity...
December 14, 2016: Endocrinology
https://www.readbyqxmd.com/read/27919438/does-an-increased-body-mass-index-affect-endometrial-gene-expression-patterns-in-infertile-patients-a%C3%A2-functional-genomics-analysis
#11
Ioanna A Comstock, Patricia Diaz-Gimeno, Sergio Cabanillas, Jose Bellver, Patricia Sebastian-Leon, Meera Shah, Amy Schutt, Cecilia T Valdes, Maria Ruiz-Alonso, Diana Valbuena, Carlos Simon, Ruth B Lathi
OBJECTIVE: To analyze the transcriptomic profile of endometrial gene alterations during the window of implantation in infertile obese patients. DESIGN: Multicenter, prospective, case-control study. SETTING: Three academic medical centers for reproductive medicine. PATIENT(S): Infertile patients, stratified into body mass index (BMI) categories according to the World Health Organization guidelines, were included in the study...
December 2, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27919340/consequences-of-irradiation-on-adult-spermatogenesis-between-infertility-and-hereditary-risk
#12
Henri-Baptiste Marjault, Isabelle Allemand
DNA damage response in adult spermatogenic cells should limit the propagation of mutations to the offspring, without being detrimental to fertility. In differentiating spermatogenic cells, the genomic instability is limited in time, whereas in spermatogonial stem cells it can be maintained all along life. Spermatogonial stem cells are long-lived cells that support normal germ cell differentiation and must be preserved throughout life. However after irradiation spermatogenesis recovery can be impaired as a consequence of the radiation-induced decline in spermatogonial stem cell...
October 2016: Mutation Research
https://www.readbyqxmd.com/read/27918162/-mutations-in-genes-affecting-fertility-of-men-current-routine-laboratory-genetic-diagnostics-and-searching-for-more-dna-segments-and-genes-influencing-spermatogenesis
#13
I Hrdlička, B Chylíková, K Veselá, M Danková, M Janků, K Řežábek, R Mihalová, F Liška
OBJECTIVE: To present the results of molecular genetics analysis in men with reproductive disorders focusing on the DNA segments and genes which affect spermatogenesis. DESIGN: Original article. SETTING: Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital, Prague. METHODS: One hundred and twenty-three patients identified with a fertility disorder were screened for mutations of the CFTR gene...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27918161/-current-options-of-preimplantion-genetic-screening-and-preimplantation-genetic-diagnostics
#14
V Šimečková
OBJECTIVE: The aim of this work is to summarize the current knowledge about preimplantation genetic screening and diagnostics. DESIGN: A review article. SETTING: Department of Gynecology and Obstetrics, District Hospital Šternberk, IVF Clinic, Olomouc. RESULTS: Preimplantation genetic testing is a complex of genetic and molecular cytogenetic examinations, which can help to detect abnormalities in embryos before transfer into the uterus of the mother...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27905141/first-case-of-sterility-associated-with-sex-chromosomal-abnormalities-in-a-jenny
#15
J Dorado, G Anaya, M Bugno-Poniewierska, A Molina, A Mendez-Sanchez, I Ortiz, M Moreno-Millán, M Hidalgo, P Peral García, S Demyda-Peyrás
Chromosomal abnormalities are one of the main causes of genetic infertility in horses. Currently, their detection rate is rising due to the use of new diagnostic tools employing molecular markers linked to the sex chromosome pair. Despite genetic similarities, there are no previous reports of sterility associated with chromosomal abnormalities in the domestic donkey (Equus asinus). Hereby, we determined the presence of a chromosomal mosaicism in a female donkey with reproductive problems using molecular methodologies developed for horses...
December 1, 2016: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/27904014/male-infertility-related-molecules-involved-in-sperm-oocyte-fusion
#16
Lisha Mou, Ni Xie
Male infertility has become a very serious problem in the human reproduction system, but the molecular mechanism of infertility remains largely unknown. Fertilization is the phenomenon in which a sperm and oocyte find each other, interact, and fuse. Sperm-oocyte fusion-related factors on the sperm side play crucial roles in male infertility. For example, IZUMO1 is well-known as a sperm protein essential for fusion of a sperm and oocyte, but its dysfunction or mutation can result in male infertility. Recent studies showed a novel sperm protein named Bactericidal/permeability-increasing protein (BPI), which takes part in the sperm-oocyte fusion process...
December 1, 2016: Journal of Reproduction and Development
https://www.readbyqxmd.com/read/27898696/regulation-of-gonad-morphogenesis-in-drosophila-melanogaster-by-btb-family-transcription-factors
#17
Diane Silva, Kenneth W Olsen, Magdalena N Bednarz, Andrew Droste, Christopher P Lenkeit, Edwin Chaharbakhshi, Emily R Temple-Wood, Jennifer C Jemc
During embryogenesis, primordial germ cells (PGCs) and somatic gonadal precursor cells (SGPs) migrate and coalesce to form the early gonad. A failure of the PGCs and SGPs to form a gonad with the proper architecture not only affects germ cell development, but can also lead to infertility. Therefore, it is critical to identify the molecular mechanisms that function within both the PGCs and SGPs to promote gonad morphogenesis. We have characterized the phenotypes of two genes, longitudinals lacking (lola) and ribbon (rib), that are required for the coalescence and compaction of the embryonic gonad in Drosophila melanogaster...
2016: PloS One
https://www.readbyqxmd.com/read/27898339/dietary-phytochemicals-for-possible-preventive-and-therapeutic-option-of-uterine-fibroids-signaling-pathways-as-target
#18
REVIEW
Md Soriful Islam, James H Segars, Mario Castellucci, Pasquapina Ciarmela
A growing interest has emerged on dietary phytochemicals to control diverse pathological conditions. Unfortunately, dietary phytochemical research in uterine fibroids is still under construction. Uterine fibroids/leiomyomas are benign tumors developing from the myometrium of the uterus in premenopausal women. They may occur in more than 70% of women, and approximately 25% of women show clinically significant symptoms. These include heavy and prolonged menstrual bleeding, pelvic pressure (urinary frequency, incontinence, and difficulty with urination), pelvic pain, pelvic mass, infertility, and reproductive dysfunction...
February 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/27898267/combining-treatment-with-myo-inositol-and-d-chiro-inositol-40-1-is-effective-in-restoring-ovary-function-and-metabolic-balance-in-pcos-patients
#19
Giovanni Monastra, Vittorio Unfer, Abdel Halim Harrath, Mariano Bizzarri
Polycystic ovary syndrome (PCOS), a relevant cause of infertility, is a heterogeneous, endocrine disorder affecting up to 10-15% of women in reproductive age. Besides hyperandrogenism, insulin resistance (IR) plays a key role in such syndrome. Insulin-sensitizing drugs, such as Metformin, are effective in treating hyper-insulinemic PCOS patients. Recently, inositols - myo-inositol (MI) and D-chiro-inositol (DCI) - have shown to be an efficient and safe alternative in PCOS management, as both inositol isoforms are able to counteract downstream consequences of insulin resistance...
November 29, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27891704/isoflavone-genistein-inhibits-estrogen-induced-chloride-and-bicarbonate-secretory-mechanisms-in-the-uterus-in-rats
#20
Asma Chinigarzadeh, Kamarulzaman Karim, Sekaran Muniandy, Naguib Salleh
We hypothesized that genistein could affect the chloride (Cl(-) ) and bicarbonate (HCO3(-) ) secretory mechanisms in uterus. Ovariectomized female rats were given estradiol or estradiol plus progesterone with 25, 50, or 100 mg/kg/day genistein. Following completion of the treatment, uterine fluid Cl(-) and HCO3(-) concentrations were determined by in vivo uterine perfusion. Uteri were subjected for molecular biological analysis (Western blot, qPCR, and immunohistochemistry) to detect levels of expression of Cystic Fibrosis transmembrane regulator (CFTR), Cl(-) /HCO3(-) exchanger (SLC26a6), Na(+) /HCO3(-) cotransporter (SLC4a4), and estrogen receptor (ER)-α and β...
November 28, 2016: Journal of Biochemical and Molecular Toxicology
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